Immunoactinopathies revisited: understanding clinical manifestations and biological pathways Available to Purchase

2.

Peng

S

,

Stojkov

D

,

Gao

J

, et al.

Nascent RHOH acts as a molecular brake on actomyosin-mediated effector functions of inflammatory neutrophils

.

PLoS Biol

.

2022

;

20

(

9

):

e3001794

.

3.

Salzer

E

,

Cagdas

D

,

Hons

M

, et al.

RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics

.

Nat Immunol

.

2016

;

17

(

12

):

1352

-

1360

.

4.

Kortum

RL

,

Rouquette-Jazdanian

AK

,

Samelson

LE

.

Ras and extracellular signal-regulated kinase signaling in thymocytes and T cells

.

Trends Immunol

.

2013

;

34

(

6

):

259

-

268

.

5.

Somekh

I

,

Marquardt

B

,

Liu

Y

, et al.

Novel mutations in RASGRP1 are associated with immunodeficiency, immune dysregulation, and EBV-induced lymphoma [published correction appears in J Clin Immunol. 2018;38(6):711]

.

J Clin Immunol

.

2018

;

38

(

6

):

699

-

710

.

6.

Platt

CD

,

Fried

AJ

,

Hoyos-Bachiloglu

R

, et al.

Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1

.

Clin Immunol

.

2017

;

183

:

142

-

144

.

7.

Winter

S

,

Martin

E

,

Boutboul

D

, et al.

Loss of RASGRP1 in humans impairs T-cell expansion leading to Epstein-Barr virus susceptibility

.

EMBO Mol Med

.

2018

;

10

(

2

):

188

-

199

.

8.

Momenilandi

M

,

Pourvali

A

,

Shahrooei

M

,

Bossuyt

X

;

Inborn Errors of Immunity Consortium

.

Two novel biallelic RASGRP1 mutations presenting with immunodeficiency, Hodgkin's lymphoma, and autoimmunity

.

J Clin Immunol

.

2022

;

42

(

6

):

1160

-

1163

.

9.

Shiow

LR

,

Roadcap

DW

,

Paris

K

, et al.

The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency

.

Nat Immunol

.

2008

;

9

(

11

):

1307

-

1315

.

10.

Janssen

E

,

Geha

RS

.

Primary immunodeficiencies caused by mutations in actin regulatory proteins

.

Immunol Rev

.

2019

;

287

(

1

):

121

-

134

.

11.

Moulding

DA

,

Record

J

,

Malinova

D

,

Thrasher

AJ

.

Actin cytoskeletal defects in immunodeficiency

.

Immunol Rev

.

2013

;

256

(

1

):

282

-

299

.

12.

Ferrari

G

,

Langen

H

,

Naito

M

,

Pieters

J

.

A coat protein on phagosomes involved in the intracellular survival of mycobacteria

.

Cell

.

1999

;

97

(

4

):

435

-

447

.

13.

Foger

N

,

Rangell

L

,

Danilenko

DM

,

Chan

AC

.

Requirement for coronin 1 in T lymphocyte trafficking and cellular homeostasis

.

Science

.

2006

;

313

(

5788

):

839

-

842

.

14.

Moshous

D

,

de Villartay

JP

.

The expanding spectrum of human coronin 1A deficiency

.

Curr Allergy Asthma Rep

.

2014

;

14

(

12

):

481

.

15.

Moshous

D

,

Martin

E

,

Carpentier

W

, et al.

Whole-exome sequencing identifies coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

.

J Allergy Clin Immunol

.

2013

;

131

(

6

):

1594

-

1603

.

16.

Mugnier

B

,

Nal

B

,

Verthuy

C

, et al.

Coronin-1A links cytoskeleton dynamics to TCR alpha beta-induced cell signaling

.

PLoS One

.

2008

;

3

(

10

):

e3467

.

17.

Sprenkeler

EGG

,

Webbers

SDS

,

Kuijpers

TW

.

When actin is not actin' like it should: a new category of distinct primary immunodeficiency disorders

.

J Innate Immun

.

2021

;

13

(

1

):

3

-

25

.

18.

Cagdas

D

,

Halacli

SO

,

Tan

C

, et al.

Diversity in serine/threonine protein kinase-4 deficiency and review of the literature

.

J Allergy Clin Immunol Pract

.

2021

;

9

(

10

):

3752

-

3766.e4

.

19.

Kamnev

A

,

Lacouture

C

,

Fusaro

M

,

Dupré

L

.

Molecular tuning of actin dynamics in leukocyte migration as revealed by immune-related actinopathies

.

Front Immunol

.

2021

;

12

:

750537

.

20.

Xu

X

,

Wang

X

,

Todd

EM

, et al.

Mst1 kinase regulates the actin-bundling protein L-plastin to promote T cell migration

.

J Immunol

.

2016

;

197

(

5

):

1683

-

1691

.

21.

Dang

TS

,

Willet

JDP

,

Griffin

HR

, et al.

Defective leukocyte adhesion and chemotaxis contributes to combined immunodeficiency in humans with autosomal recessive MST1 deficiency [published correction appears in J Clin Immunol. 2016;36(3):336-337]

.

J Clin Immunol

.

2016

;

36

(

2

):

117

-

122

.

22.

Halacli

SO

,

Ayvaz

DC

,

Sun-Tan

C

, et al.

STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: a novel mutation

.

Clin Immunol

.

2015

;

161

(

2

):

316

-

323

.

23.

Abdollahpour

H

,

Appaswamy

G

,

Kotlarz

D

, et al.

The phenotype of human STK4 deficiency

.

Blood

.

2012

;

119

(

15

):

3450

-

3457

.

24.

Nehme

NT

,

Schmid

JP

,

Debeurme

F

, et al.

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

.

Blood

.

2012

;

119

(

15

):

3458

-

3468

.

25.

Tomiyama

T

,

Ueda

Y

,

Katakai

T

,

Kondo

N

,

Okazaki

K

,

Kinashi

T

.

Antigen-specific suppression and immunological synapse formation by regulatory T cells require the Mst1 kinase

.

PLoS One

.

2013

;

8

(

9

):

e73874

.

26.

Kondo

N

,

Ueda

Y

,

Kita

T

, et al.

NDR1-dependent regulation of kindlin-3 controls high-affinity LFA-1 binding and immune synapse organization

.

Mol Cell Biol

.

2017

;

37

(

8

):

e00424-16

.

27.

Stevenson

C

,

de la Rosa

G

,

Anderson

CS

, et al.

Essential role of Elmo1 in Dock2-dependent lymphocyte migration

.

J Immunol

.

2014

;

192

(

12

):

6062

-

6070

.

28.

Kunimura

K

,

Uruno

T

,

Fukui

Y

.

DOCK family proteins: key players in immune surveillance mechanisms

.

Int Immunol

.

2020

;

32

(

1

):

5

-

15

.

29.

Dobbs

K

,

Domínguez Conde

C

,

Zhang

SY

, et al.

Inherited DOCK2 deficiency in patients with early-onset invasive infections

.

N Engl J Med

.

2015

;

372

(

25

):

2409

-

2422

.

30.

Moens

L

,

Gouwy

M

,

Bosch

B

, et al.

Human DOCK2 deficiency: report of a novel mutation and evidence for neutrophil dysfunction

.

J Clin Immunol

.

2019

;

39

(

3

):

298

-

308

.

31.

Fukui

Y

,

Hashimoto

O

,

Sanui

T

, et al.

Haematopoietic cell-specific CDM family protein DOCK2 is essential for lymphocyte migration

.

Nature

.

2001

;

412

(

6849

):

826

-

831

.

32.

Le Floc'h

A

,

Tanaka

Y

,

Bantilan

NS

, et al.

Annular PIP3 accumulation controls actin architecture and modulates cytotoxicity at the immunological synapse [published correction appears in J Exp Med. 2017;214(4):1203]

.

J Exp Med

.

2013

;

210

(

12

):

2721

-

2737

.

33.

Knaus

UG

,

Heyworth

PG

,

Evans

T

,

Curnutte

JT

,

Bokoch

GM

.

Regulation of phagocyte oxygen radical production by the GTP-binding protein Rac 2

.

Science

.

1991

;

254

(

5037

):

1512

-

1515

.

34.

Schaks

M

,

Singh

SP

,

Kage

F

, et al.

Distinct interaction sites of Rac GTPase with WAVE regulatory complex have non-redundant functions in vivo

.

Curr Biol

.

2018

;

28

(

22

):

3674

-

3684.e6

.

35.

Hsu

AP

,

Donkó

A

,

Arrington

ME

, et al.

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects

.

Blood

.

2019

;

133

(

18

):

1977

-

1988

.

36.

Donko

A

,

Sharapova

SO

,

Kabat

J

, et al.

Clinical and functional spectrum of RAC2-related immunodeficiency

.

Blood

.

2024

;

143

(

15

):

1476

-

1487

.

37.

Doye

A

,

Chaintreuil

P

,

Lagresle-Peyrou

C

, et al.

RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation

.

J Exp Med

.

2024

;

221

(

10

):

e20231562

.

38.

Schlechter

N

,

Glanzmann

B

,

Hoal

EG

, et al.

Exome sequencing identifies a novel MAP3K14 mutation in recessive atypical combined immunodeficiency

.

Front Immunol

.

2017

;

8

:

1624

.

39.

Willmann

KL

,

Klaver

S

,

Doğu

F

, et al.

Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity

.

Nat Commun

.

2014

;

5

:

5360

.

40.

Le Voyer

T

,

Parent

AV

,

Liu

X

, et al.

Autoantibodies against type I IFNs in humans with alternative NF-kappaB pathway deficiency

.

Nature

.

2023

;

623

(

7988

):

803

-

813

.

41.

Lagresle-Peyrou

C

,

Luce

S

,

Ouchani

F

, et al.

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene

.

J Allergy Clin Immunol

.

2016

;

138

(

6

):

1681

-

1689.e8

.

42.

Delmonte

OM

,

Biggs

CM

,

Hayward

A

, et al.

First case of X-linked moesin deficiency identified after newborn screening for SCID

.

J Clin Immunol

.

2017

;

37

(

4

):

336

-

338

.

43.

Ilani

T

,

Khanna

C

,

Zhou

M

,

Veenstra

TD

,

Bretscher

A

.

Immune synapse formation requires ZAP-70 recruitment by ezrin and CD43 removal by moesin

.

J Cell Biol

.

2007

;

179

(

4

):

733

-

746

.

44.

Lam

MT

,

Coppola

S

,

Krumbach

OHF

, et al.

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

.

J Exp Med

.

2019

;

216

(

12

):

2778

-

2799

.

45.

Yasuda

S

,

Oceguera-Yanez

F

,

Kato

T

, et al.

Cdc42 and mDia3 regulate microtubule attachment to kinetochores

.

Nature

.

2004

;

428

(

6984

):

767

-

771

.

46.

Endo

M

,

Cerione

RA

.

The brain-specific splice variant of the CDC42 GTPase works together with the kinase ACK to downregulate the EGF receptor in promoting neurogenesis

.

J Biol Chem

.

2022

;

298

(

11

):

102564

.

47.

Chemin

K

,

Bohineust

A

,

Dogniaux

S

, et al.

Cytokine secretion by CD4+ T cells at the immunological synapse requires Cdc42-dependent local actin remodeling but not microtubule organizing center polarity

.

J Immunol

.

2012

;

189

(

5

):

2159

-

2168

.

48.

Weiner

OD

,

Marganski

WA

,

Wu

LF

,

Altschuler

SJ

,

Kirschner

MW

.

An actin-based wave generator organizes cell motility

.

PLoS Biol

.

2007

;

5

(

9

):

e221

.

49.

Salzer

E

,

Zoghi

S

,

Kiss

MG

, et al.

The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity

.

Sci Immunol

.

2020

;

5

(

49

):

eabc3979

.

50.

Cook

SA

,

Comrie

WA

,

Poli

MC

, et al.

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

.

Science

.

2020

;

369

(

6500

):

202

-

207

.

51.

Weiner

OD

,

Rentel

MC

,

Ott

A

, et al.

Hem-1 complexes are essential for Rac activation, actin polymerization, and myosin regulation during neutrophil chemotaxis

.

PLoS Biol

.

2006

;

4

(

2

):

e38

.

52.

Boussard

C

,

Delage

L

,

Gajardo

T

, et al.

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

.

Blood

.

2023

;

141

(

22

):

2713

-

2726

.

53.

Block

J

,

Rashkova

C

,

Castanon

I

, et al.

Systemic inflammation and normocytic anemia in DOCK11 deficiency

.

N Engl J Med

.

2023

;

389

(

6

):

527

-

539

.

54.

Fournier

B

,

Tusseau

M

,

Villard

M

, et al.

DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity

.

J Allergy Clin Immunol

.

2021

;

147

(

2

):

740

-

743.e9

.

55.

Serwas

NK

,

Hoeger

B

,

Ardy

RC

, et al.

Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis [published correction appears in Nat Commun. 2019;10(1):4555]

.

Nat Commun

.

2019

;

10

(

1

):

3106

.

56.

Fanzo

JC

,

Yang

W

,

Jang

SY

, et al.

Loss of IRF-4-binding protein leads to the spontaneous development of systemic autoimmunity

.

J Clin Invest

.

2006

;

116

(

3

):

703

-

714

.

57.

Cuvertino

S

,

Stuart

HM

,

Chandler

KE

, et al.

ACTB loss-of-function mutations result in a pleiotropic developmental disorder

.

Am J Hum Genet

.

2017

;

101

(

6

):

1021

-

1033

.

58.

Bhattad

S

,

Ramakrishna

SH

,

Kumar

R

,

Choi

JM

,

Markle

JG

.

Immune dysregulation due to bi-allelic mutation of the actin remodeling protein DIAPH1

.

Front Immunol

.

2024

;

15

:

1406781

.

59.

Kaustio

M

,

Nayebzadeh

N

,

Hinttala

R

, et al.

Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction

.

J Allergy Clin Immunol

.

2021

;

148

(

2

):

599

-

611

.

60.

Li

D

,

Sewer

MB

.

RhoA and DIAPH1 mediate adrenocorticotropin-stimulated cortisol biosynthesis by regulating mitochondrial trafficking

.

Endocrinology

.

2010

;

151

(

9

):

4313

-

4323

.

61.

Minin

AA

,

Kulik

AV

,

Gyoeva

FK

,

Li

Y

,

Goshima

G

,

Gelfand

VI

.

Regulation of mitochondria distribution by RhoA and formins

.

J Cell Sci

.

2006

;

119

(

Pt 4

):

659

-

670

.

62.

Ercan-Sencicek

AG

,

Jambi

S

,

Franjic

D

, et al.

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

.

Eur J Hum Genet

.

2015

;

23

(

2

):

165

-

172

.

63.

Esmaeilzadeh

H

,

Noeiaghdam

R

,

Johari

L

,

Hosseini

SA

,

Nabavizadeh

SH

,

Alyasin

SS

.

Homozygous autosomal recessive DIAPH1 mutation associated with central nervous system involvement and aspergillosis: a rare case

.

Case Rep Genet

.

2022

;

2022

:

4142214

.

64.

Stritt

S

,

Nurden

P

,

Turro

E

, et al.

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

.

Blood

.

2016

;

127

(

23

):

2903

-

2914

.

65.

Burns

SO

,

Zarafov

A

,

Thrasher

AJ

.

Primary immunodeficiencies due to abnormalities of the actin cytoskeleton

.

Curr Opin Hematol

.

2017

;

24

(

1

):

16

-

22

.

66.

Thrasher

AJ

,

Burns

SO

.

WASP: a key immunological multitasker

.

Nat Rev Immunol

.

2010

;

10

(

3

):

182

-

192

.

67.

Ochs

HD

,

Thrasher

AJ

.

The Wiskott-Aldrich syndrome

.

J Allergy Clin Immunol

.

2006

;

117

(

4

):

725

-

739

. quiz 739.

68.

Dupre

L

,

Aiuti

A

,

Trifari

S

, et al.

Wiskott-Aldrich syndrome protein regulates lipid raft dynamics during immunological synapse formation

.

Immunity

.

2002

;

17

(

2

):

157

-

166

.

69.

Cannon

JL

,

Burkhardt

JK

.

Differential roles for Wiskott-Aldrich syndrome protein in immune synapse formation and IL-2 production

.

J Immunol

.

2004

;

173

(

3

):

1658

-

1662

.

70.

Rawlings

SL

,

Crooks

GM

,

Bockstoce

D

,

Barsky

LW

,

Parkman

R

,

Weinberg

KI

.

Spontaneous apoptosis in lymphocytes from patients with Wiskott-Aldrich syndrome: correlation of accelerated cell death and attenuated bcl-2 expression

.

Blood

.

1999

;

94

(

11

):

3872

-

3882

.

71.

Rengan

R

,

Ochs

HD

,

Sweet

LI

, et al.

Actin cytoskeletal function is spared, but apoptosis is increased, in WAS patient hematopoietic cells

.

Blood

.

2000

;

95

(

4

):

1283

-

1292

.

72.

Jackson

SW

,

Jacobs

HM

,

Arkatkar

T

, et al.

B cell IFN-gamma receptor signaling promotes autoimmune germinal centers via cell-intrinsic induction of BCL-6

.

J Exp Med

.

2016

;

213

(

5

):

733

-

750

.

73.

Kolhatkar

NS

,

Brahmandam

A

,

Thouvenel

CD

, et al.

Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome

.

J Exp Med

.

2015

;

212

(

10

):

1663

-

1677

.

74.

Kolhatkar

NS

,

Scharping

NE

,

Sullivan

JM

, et al.

B-cell intrinsic TLR7 signals promote depletion of the marginal zone in a murine model of Wiskott-Aldrich syndrome [published correction appears in Eur J Immunol. 2016;46(3):782]

.

Eur J Immunol

.

2015

;

45

(

10

):

2773

-

2779

.

75.

Becker-Herman

S

,

Meyer-Bahlburg

A

,

Schwartz

MA

, et al.

WASp-deficient B cells play a critical, cell-intrinsic role in triggering autoimmunity

.

J Exp Med

.

2011

;

208

(

10

):

2033

-

2042

.

76.

Baptista

MA

,

Keszei

M

,

Oliveira

M

, et al.

Deletion of Wiskott-Aldrich syndrome protein triggers Rac2 activity and increased cross-presentation by dendritic cells

.

Nat Commun

.

2016

;

7

:

12175

.

77.

Pfajfer

L

,

Seidel

MG

,

Houmadi

R

, et al.

WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly

.

Blood

.

2017

;

130

(

17

):

1949

-

1953

.

78.

Vasquez-Echeverri

E

,

Yamazaki-Nakashimada

MA

,

Venegas Montoya

E

, et al.

Is your kid actin out? A series of six patients with inherited actin-related protein 2/3 complex subunit 1B deficiency and review of the literature

.

J Allergy Clin Immunol Pract

.

2023

;

11

(

4

):

1261

-

1280.e8

.

79.

Brigida

I

,

Zoccolillo

M

,

Cicalese

MP

, et al.

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency

.

Blood

.

2018

;

132

(

22

):

2362

-

2374

.

80.

Leung

G

,

Zhou

Y

,

Ostrowski

P

, et al.

ARPC1B binds WASP to control actin polymerization and curtail tonic signaling in B cells

.

JCI Insight

.

2021

;

6

(

23

):

e149376

.

81.

Randzavola

LO

,

Strege

K

,

Juzans

M

, et al.

Loss of ARPC1B impairs cytotoxic T lymphocyte maintenance and cytolytic activity

.

J Clin Invest

.

2019

;

129

(

12

):

5600

-

5614

.

82.

Schober

T

,

Magg

T

,

Laschinger

M

, et al.

A human immunodeficiency syndrome caused by mutations in CARMIL2

.

Nat Commun

.

2017

;

8

:

14209

.

83.

Liang

Y

,

Cucchetti

M

,

Roncagalli

R

, et al.

The lymphoid lineage-specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells

.

Nat Immunol

.

2013

;

14

(

8

):

858

-

866

.

84.

Keles

S

,

Charbonnier

LM

,

Kabaleeswaran

V

, et al.

Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes T(H)17 cell differentiation

.

J Allergy Clin Immunol

.

2016

;

138

(

5

):

1384

-

1394.e2

.

85.

Randall

KL

,

Chan

SSY

,

Ma

CS

, et al.

DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice

.

J Exp Med

.

2011

;

208

(

11

):

2305

-

2320

.

86.

Zhang

Q

,

Dove

CG

,

Hor

JL

, et al.

DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity

.

J Exp Med

.

2014

;

211

(

13

):

2549

-

2566

.

87.

Janssen

E

,

Morbach

H

,

Ullas

S

, et al.

Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells

.

J Allergy Clin Immunol

.

2014

;

134

(

6

):

1365

-

1374

.

88.

Keles

S

,

Jabara

HH

,

Reisli

I

, et al.

Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-alpha 2b therapy

.

J Allergy Clin Immunol

.

2014

;

133

(

6

):

1753

-

1755.e3

.

89.

Singh

AK

,

Eken

A

,

Fry

M

,

Bettelli

E

,

Oukka

M

.

DOCK8 regulates protective immunity by controlling the function and survival of RORgammat+ ILCs

.

Nat Commun

.

2014

;

5

:

4603

.

90.

Crawford

G

,

Enders

A

,

Gileadi

U

, et al.

DOCK8 is critical for the survival and function of NKT cells

.

Blood

.

2013

;

122

(

12

):

2052

-

2061

.

91.

Pfajfer

L

,

Mair

NK

,

Jiménez-Heredia

R

, et al.

Mutations affecting the actin regulator WD repeat-containing protein 1 lead to aberrant lymphoid immunity

.

J Allergy Clin Immunol

.

2018

;

142

(

5

):

1589

-

1604.e11

.

92.

Kuhns

DB

,

Fink

DL

,

Choi

U

, et al.

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency

.

Blood

.

2016

;

128

(

17

):

2135

-

2143

.

93.

Standing

AS

,

Malinova

D

,

Hong

Y

, et al.

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1

.

J Exp Med

.

2017

;

214

(

1

):

59

-

71

.

94.

Bouafia

A

,

Lofek

S

,

Bruneau

J

, et al.

Loss of ARHGEF1 causes a human primary antibody deficiency

.

J Clin Invest

.

2019

;

129

(

3

):

1047

-

1060

.

95.

Crequer

A

,

Troeger

A

,

Patin

E

, et al.

Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections

.

J Clin Invest

.

2012

;

122

(

9

):

3239

-

3247

.

96.

Zhou

J

,

Qian

M

,

Jiang

N

, et al.

A novel homozygous RHOH variant associated with T cell dysfunction and recurrent opportunistic infections

.

J Clin Immunol

.

2024

;

44

(

6

):

131

.

97.

Kalinichenko

A

,

Perinetti Casoni

G

,

Dupré

L

, et al.

RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis

.

Blood

.

2021

;

137

(

15

):

2033

-

2045

.

98.

Garcia-Solis

B

,

Van Den Rym

A

,

Martinez-Martínez

L

, et al.

Inherited human ezrin deficiency impairs adaptive immunity

.

J Allergy Clin Immunol

.

2023

;

152

(

4

):

997

-

1009.e11

.

99.

Riecken

LB

,

Tawamie

H

,

Dornblut

C

, et al.

Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability

.

Hum Mutat

.

2015

;

36

(

2

):

270

-

278

.

100.

Dupre

L

,

Prunier

G

.

Deciphering actin remodelling in immune cells through the prism of actin-related inborn errors of immunity

.

Eur J Cell Biol

.

2023

;

102

(

1

):

151283

.

101.

Vieira

RC

,

Pinho

LG

,

Westerberg

LS

.

Understanding immunoactinopathies: a decade of research on WAS gene defects

.

Pediatr Allergy Immunol

.

2023

;

34

(

4

):

e13951

.

102.

Mao

H

,

Yang

W

,

Latour

S

, et al.

RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease

.

J Allergy Clin Immunol

.

2018

;

142

(

2

):

595

-

604.e16

.

103.

Mansour

R

,

El-Orfali

Y

,

Saidu

A

, et al.

A novel homozygous mutation in RASGRP1 that predisposes to immune dysregulation and immunodeficiency associated with uncontrolled Epstein-Barr virus-induced B cell proliferation

.

Clin Immunol

.

2023

;

257

:

109813

.

104.

Kuskonmaz

B

,

Ayvaz

D

,

Okur

FV

,

Aydın

B

,

Tezcan

I

,

Uckan Cetinkaya

D

.

First allogeneic hematopoietic stem cell transplantation in RASGRP1 deficiency: long-term follow-up

.

Bone Marrow Transplant

.

2022

;

57

(

7

):

1210

-

1212

.

105.

Shiow

LR

,

Paris

K

,

Akana

MC

,

Cyster

JG

,

Sorensen

RU

,

Puck

JM

.

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a coronin-1A mutation and a chromosome 16p11.2 deletion

.

Clin Immunol

.

2009

;

131

(

1

):

24

-

30

.

106.

Stray-Pedersen

A

,

Jouanguy

E

,

Crequer

A

, et al.

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy

.

J Clin Immunol

.

2014

;

34

(

7

):

871

-

890

.

107.

Punwani

D

,

Pelz

B

,

Yu

J

, et al.

Coronin-1A: immune deficiency in humans and mice

.

J Clin Immunol

.

2015

;

35

(

2

):

100

-

107

.

108.

Yee

CS

,

Massaad

MJ

,

Bainter

W

, et al.

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association

.

J Allergy Clin Immunol

.

2016

;

137

(

3

):

879

. 88.e2.

109.

Muleviciene

A

,

Sekine

T

,

Zondag

T

,

Bryceson

YT

,

Tesi

B

,

Rascon

J

.

Childhood Kaposi sarcoma related to hypomorphic severe combined immunodeficiency caused by a novel CORO1A mutation

.

Pediatr Blood Cancer

.

2022

;

69

(

5

):

e29487

.

110.

Mace

EM

,

Orange

JS

.

Lytic immune synapse function requires filamentous actin deconstruction by coronin 1A

.

Proc Natl Acad Sci U S A

.

2014

;

111

(

18

):

6708

-

6713

.

111.

Ovadia

A

,

Kim

VHD

,

Reid

B

,

Dadi

H

,

Pham-Huy

A

,

Roifman

CM

.

Successful hematopoietic stem cell transplantation in a patient with a novel mutation in coronin 1A

.

LymphoSign Journal

.

2019

;

6

(

2

):

52

-

60

.

112.

El Kettani

A

,

Ailal

F

,

Marnissi

F

, et al.

Atypical cutaneous viral infections reveal an inborn error of immunity in 8 patients

.

Microorganisms

.

2023

;

11

(

5

):

1202

.

113.

Delavari

S

,

Rasouli

SE

,

Fekrvand

S

, et al.

Clinical heterogeneity in families with multiple cases of inborn errors of immunity

.

Clin Immunol

.

2024

;

259

:

109896

.

114.

Jorgensen

SE

,

Al-Mousawi

A

,

Assing

K

, et al.

STK4 deficiency impairs innate immunity and interferon production through negative regulation of TBK1-IRF3 signaling

.

J Clin Immunol

.

2021

;

41

(

1

):

109

-

124

.

115.

Al-Saud

B

,

Alajlan

H

,

Sabar

H

, et al.

STK4 deficiency in a patient with immune complex glomerulonephritis, salt-losing tubulopathy, and Castleman's-like disease

.

J Clin Immunol

.

2019

;

39

(

8

):

823

-

826

.

116.

Moran

I

,

Avery

DT

,

Payne

K

, et al.

B cell-intrinsic requirement for STK4 in humoral immunity in mice and human subjects

.

J Allergy Clin Immunol

.

2019

;

143

(

6

):

2302

-

2305

.

117.

Schipp

C

,

Schlütermann

D

,

Hönscheid

A

, et al.

EBV negative lymphoma and autoimmune lymphoproliferative syndrome like phenotype extend the clinical spectrum of primary immunodeficiency caused by STK4 deficiency

.

Front Immunol

.

2018

;

9

:

2400

.

118.

Crequer

A

,

Picard

C

,

Patin

E

, et al.

Inherited MST1 deficiency underlies susceptibility to EV-HPV infections

.

PLoS One

.

2012

;

7

(

8

):

e44010

.

119.

Saglam

A

,

Cagdas

D

,

Aydin

B

, et al.

STK4 deficiency and EBV-associated lymphoproliferative disorders, emphasis on histomorphology, and review of literature

.

Virchows Arch

.

2022

;

480

(

2

):

393

-

401

.

120.

Radwan

N

,

El-Owaidy

R

,

El-Sayed

ZA

, et al.

A case of STK4 deficiency with complications evoking mycobacterial infection

.

J Clin Immunol

.

2020

;

40

(

4

):

665

-

669

.

121.

Sharafian

S

,

Ziaee

V

,

Shahrooei

M

,

Ahadi

M

,

Parvaneh

N

.

A novel STK4 mutation presenting with juvenile idiopathic arthritis and epidermodysplasia verruciformis

.

J Clin Immunol

.

2019

;

39

(

1

):

11

-

14

.

122.

Uygun

V

,

Keleş

S

,

Daloğlu

H

, et al.

Hematopoietic stem cell transplantation in serine/threonine kinase 4 (STK4) deficiency: report of two cases and literature review

.

Pediatr Transplant

.

2023

;

27

(

2

):

e14439

.

123.

Abolnezhadian

F

,

Iranparast

S

,

Ahmadpour

F

.

Identical twins with a mutation in the STK4 gene showing clinical manifestations of the mutation at different ages: a case report

.

Iran J Immunol

.

2020

;

17

(

4

):

333

-

340

.

124.

Gutierrez-Marin

PA

,

Castano-Jaramillo

LM

,

Velez-Tirado

N

, et al.

STK4 deficiency and epidermodysplasia verruciformis-like lesions: a case report

.

Pediatr Dermatol

.

2024

;

41

(

1

):

96

-

99

.

125.

Guennoun

A

,

Bougarn

S

,

Khan

T

, et al.

A novel STK4 mutation impairs T cell immunity through dysregulation of cytokine-induced adhesion and chemotaxis genes

.

J Clin Immunol

.

2021

;

41

(

8

):

1839

-

1852

.

126.

Sherkat

R

,

Sabri

MR

,

Dehghan

B

, et al.

EBV lymphoproliferative-associated disease and primary cardiac T-cell lymphoma in a STK4 deficient patient: a case report

.

Medicine (Baltim)

.

2017

;

96

(

48

):

e8852

.

127.

Ashrafi

F

,

Klein

C

,

Poorpooneh

M

,

Sherkat

R

,

Khoshnevisan

R

.

A case report of sinusoidal diffuse large B-cell lymphoma in a STK4 deficient patient

.

Medicine (Baltim)

.

2020

;

99

(

9

):

e18601

.

128.

Ying

W

,

Long

X

,

Vandergriff

T

, et al.

Epidermodysplasia verruciformis and Vdelta2 gammadelta T-cell expansion in STK4 deficiency

.

J Clin Immunol

.

2024

;

44

(

8

):

172

.

129.

Al-Saud

B

,

Alajlan

H

,

Alruwaili

H

, et al.

A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: case report

.

Front Immunol

.

2024

;

15

:

1329610

.

130.

Li

W

,

Sun

Y

,

Yu

L

, et al.

Multiple immune defects in two patients with novel DOCK2 mutations result in recurrent multiple infection including live attenuated virus vaccine

.

J Clin Immunol

.

2023

;

43

(

6

):

1193

-

1207

.

131.

Ben Farhat

K

,

Alosaimi

MF

,

Shendi

H

, et al.

Immunologic reconstitution following hematopoietic stem cell transplantation despite lymph node paucity in NF-kappaB-inducing kinase deficiency

.

J Allergy Clin Immunol

.

2019

;

143

(

3

):

1240

-

1243.e4

.

132.

Bradshaw

G

,

Lualhati

RR

,

Albury

CL

, et al.

Exome sequencing diagnoses X-linked moesin-associated immunodeficiency in a primary immunodeficiency case

.

Front Immunol

.

2018

;

9

:

420

.

133.

Urdinez

L

,

Goris

V

,

Falbo

J

,

Oleastro

M

,

Danielian

S

.

Argentinian X-MAID siblings with one of them manifesting a rare ophthalmological complication

.

J Clin Immunol

.

2021

;

41

(

8

):

1960

-

1963

.

134.

Sun

B

,

Liu

L

,

Han

L

, et al.

Novel mutation in the moesin (MSN) gene leads to immunodeficiency with Epstein-Barr virus (EBV) infection and dermatomyositis-like symptoms

.

J Clin Immunol

.

2024

;

44

(

7

):

155

.

135.

Hui

XY

,

Sun

JQ

,

Wang

WJ

,

Wang

Y

,

Wu

BB

,

Wang

XC

.

Primary immunodeficiency disease caused by MSN gene mutation in one child and literature review

.

Chinese J Evid Base Pediatric

.

2017

;

12

(

4

):

300

-

303

.

136.

Henrickson

SE

,

Andre-Schmutz

I

,

Lagresle-Peyrou

C

, et al.

Hematopoietic stem cell transplant for the treatment of X-MAID

.

Front Pediatr

.

2019

;

7

:

170

.

137.

Li

M

,

Luo

S

,

Zhuo

Z

,

Shu

M

.

Two cases of pediatric primary immunodeficiency caused by a familial moesin(MSN)gene mutation

.

Clin Immunol

.

2024

;

258

:

109858

.

138.

Fang

Y

,

Luo

Y

,

Liu

Y

,

Chen

J

.

A novel variant of X-linked moesin gene in a boy with inflammatory bowel disease like disease-a case report

.

Front Genet

.

2022

;

13

:

873635

.

139.

Kovacs

AL

,

Kárteszi

J

,

Prohászka

Z

, et al.

Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of immunodeficiency 50

.

Front Immunol

.

2022

;

13

:

919411

.

140.

Gernez

Y

,

de Jesus

AA

,

Alsaleem

H

, et al.

Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1beta inhibition

.

J Allergy Clin Immunol

.

2019

;

144

(

4

):

1122

-

1125.e6

.

141.

van Wijck

RTA

,

Swagemakers

SMA

,

van der Spek

PJ

,

van Hagen

PM

,

van Daele

PLA

.

A CDC42 stop-loss mutation in a patient with relapsing polychondritis and autoinflammation

.

J Clin Immunol

.

2023

;

43

(

1

):

69

-

71

.

142.

He

T

,

Huang

Y

,

Ling

J

,

Yang

J

.

A new patient with NOCARH syndrome due to CDC42 defect

.

J Clin Immunol

.

2020

;

40

(

4

):

571

-

575

.

143.

Asiri

A

,

Alwadaani

D

,

Umair

M

, et al.

Pancytopenia, recurrent infection, poor wound healing, heterotopia of the brain probably associated with a candidate novel de novo CDC42 gene defect: expanding the molecular and phenotypic spectrum

.

Genes (Basel)

.

2021

;

12

(

2

):

294

.

144.

Martinelli

S

,

Krumbach

OHF

,

Pantaleoni

F

, et al.

Functional dysregulation of CDC42 causes diverse developmental phenotypes

.

Am J Hum Genet

.

2018

;

102

(

2

):

309

-

320

.

145.

Kashani

P

,

Marwaha

A

,

Feanny

S

, et al.

Progressive decline of T and B cell numbers and function in a patient with CDC42 deficiency

.

Immunol Res

.

2021

;

69

(

1

):

53

-

58

.

146.

Bucciol

G

,

Pillay

B

,

Casas-Martin

J

, et al.

Systemic inflammation and myelofibrosis in a patient with Takenouchi-Kosaki syndrome due to CDC42 Tyr64Cys mutation

.

J Clin Immunol

.

2020

;

40

(

4

):

567

-

570

.

147.

Santoro

C

,

Gaudino

G

,

Torella

A

, et al.

Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature

.

Eur J Med Genet

.

2021

;

64

(

12

):

104358

.

148.

Schnabel

F

,

Kamphausen

SB

,

Funke

R

,

Kaulfuß

S

,

Wollnik

B

,

Zenker

M

.

Aplasia cutis congenita in a CDC42-related developmental phenotype

.

Am J Med Genet A

.

2021

;

185

(

3

):

850

-

855

.

149.

Takenouchi

T

,

Kosaki

R

,

Niizuma

T

,

Hata

K

,

Kosaki

K

.

Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: yet another locus for thrombocytopenia and developmental delay

.

Am J Med Genet A

.

2015

;

167A

(

11

):

2822

-

2825

.

150.

Takenouchi

T

,

Okamoto

N

,

Ida

S

,

Uehara

T

,

Kosaki

K

.

Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia

.

Am J Med Genet A

.

2016

;

170A

(

4

):

852

-

855

.

151.

Flynn

K

,

Feben

C

,

Lamola

L

, et al.

Ending a diagnostic odyssey-the first case of Takenouchi-Kosaki syndrome in an African patient

.

Clin Case Rep

.

2021

;

9

(

4

):

2144

-

2148

.

152.

Motokawa

M

,

Watanabe

S

,

Nakatomi

A

, et al.

A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome

.

J Hum Genet

.

2018

;

63

(

3

):

387

-

390

.

153.

Szczawinska-Poplonyk

A

,

Ploski

R

,

Bernatowska

E

,

Pac

M

.

A novel CDC42 mutation in an 11-year old child manifesting as syndromic immunodeficiency, autoinflammation, hemophagocytic lymphohistiocytosis, and malignancy: a case report

.

Front Immunol

.

2020

;

11

:

318

.

154.

Szczawinska-Poplonyk

A

,

Popłonyk

N

,

Badura-Stronka

M

, et al.

The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report

.

Front Genet

.

2023

;

14

:

1108852

.

155.

Cook

S

,

Lenardo

MJ

,

Freeman

AF

.

HEM1 actin immunodysregulatory disorder: genotypes, phenotypes, and future directions

.

J Clin Immunol

.

2022

;

42

(

8

):

1583

-

1592

.

156.

Castro

CN

,

Rosenzwajg

M

,

Carapito

R

, et al.

NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation

.

J Exp Med

.

2020

;

217

(

12

):

e20192275

.

157.

Christodoulou

A

,

Tsai

JY

,

Suwankitwat

N

,

Anderson

A

,

Iritani

BM

.

Hem1 inborn errors of immunity: waving goodbye to coordinated immunity in mice and humans

.

Front Immunol

.

2024

;

15

:

1402139

.

158.

Tangye

SG

,

Meyts

I

.

DOCK11 and immune disease

.

N Engl J Med

.

2023

;

389

(

6

):

563

-

567

.

159.

Latham

SL

,

Ehmke

N

,

Reinke

PYA

, et al.

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia [published correction appears in Nat Commun. 2018;9(1):4930]

.

Nat Commun

.

2018

;

9

(

1

):

4250

.

160.

Nunoi

H

,

Yamazaki

T

,

Tsuchiya

H

, et al.

A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection

.

Proc Natl Acad Sci U S A

.

1999

;

96

(

15

):

8693

-

8698

.

161.

Verloes

A.

,

Drunat

S.

,

Pilz

D.

,

Di Donato

N.

, et al. Baraitser-Winter cerebrofrontofacial syndrome. In:

Adam

M.P.

,

Feldman

J.

,

Mirzaa

G.M.

, eds.

GeneReviews

.

University of Washington

;

1993

. Initial Posting 19 November 2015; Last Update 24 March 2022.

162.

Choi

GJ

,

Kim

MS

,

Park

H

, et al.

The first Korean case of Baraitser-Winter cerebro-fronto-facial syndrome with a novel mutation in ACTB diagnosed via targeted gene panel sequencing and literature review

.

Ann Clin Lab Sci

.

2020

;

50

(

6

):

818

-

824

.

163.

Al-Maawali

A

,

Barry

BJ

,

Rajab

A

, et al.

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

.

Am J Med Genet A

.

2016

;

170A

(

2

):

435

-

440

.

164.

Ueyama

T

,

Ninoyu

Y

,

Nishio

SY

, et al.

Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss

.

EMBO Mol Med

.

2016

;

8

(

11

):

1310

-

1324

.

165.

Ganaha

A

,

Kaname

T

,

Shinjou

A

, et al.

Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease

.

Am J Med Genet A

.

2017

;

173

(

10

):

2826

-

2830

.

166.

Lalwani

AK

,

Jackler

RK

,

Sweetow

RW

, et al.

Further characterization of the DFNA1 audiovestibular phenotype

.

Arch Otolaryngol Head Neck Surg

.

1998

;

124

(

6

):

699

-

702

.

167.

Lynch

ED

,

Lee

MK

,

Morrow

JE

,

Welcsh

PL

,

León

PE

,

King

MC

.

Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous

.

Science

.

1997

;

278

(

5341

):

1315

-

1318

.

168.

Neuhaus

C

,

Lang-Roth

R

,

Zimmermann

U

, et al.

Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1)

.

Clin Genet

.

2017

;

91

(

6

):

892

-

901

.

169.

Kang

TH

,

Baek

JI

,

Sagong

B

, et al.

A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss

.

Genes Genet Syst

.

2017

;

91

(

5

):

289

-

292

.

170.

Mohseni

M

,

Mohammadi

Y

,

Zare Ashrafi

F

, et al.

An extended Iranian family with autosomal dominant non-syndromic hearing loss associated with a nonsense mutation in the DIAPH1 gene

.

Arch Iran Med

.

2023

;

26

(

3

):

176

-

180

.

171.

Karki

NR

,

Ajebo

G

,

Savage

N

,

Kutlar

A

.

DIAPH1 mutation as a novel cause of autosomal dominant macrothrombocytopenia and hearing loss

.

Acta Haematol

.

2021

;

144

(

1

):

91

-

94

.

172.

Kim

BJ

,

Ueyama

T

,

Miyoshi

T

, et al.

Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human DIAPH1-related cytoskeletopathy

.

J Med Genet

.

2019

;

56

(

12

):

818

-

827

.

173.

Wu

K

,

Wang

H

,

Guan

J

, et al.

A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family

.

Int J Pediatr Otorhinolaryngol

.

2020

;

133

:

109947

.

174.

Dupuis-Girod

S

,

Medioni

J

,

Haddad

E

, et al.

Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients

.

Pediatrics

.

2003

;

111

(

5 pt 1

):

e622

-

e627

.

175.

Imai

K

,

Morio

T

,

Zhu

Y

, et al.

Clinical course of patients with WASP gene mutations

.

Blood

.

2004

;

103

(

2

):

456

-

464

.

176.

Ochs

HD

,

Filipovich

AH

,

Veys

P

,

Cowan

MJ

,

Kapoor

N

.

Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment

.

Biol Blood Marrow Transplant

.

2009

;

15

(

suppl 1

):

84

-

90

.

177.

Sullivan

KE

,

Mullen

CA

,

Blaese

RM

,

Winkelstein

JA

.

A multiinstitutional survey of the Wiskott-Aldrich syndrome

.

J Pediatr

.

1994

;

125

(

6 Pt 1

):

876

-

885

.

178.

Rivers

E

,

Worth

A

,

Thrasher

AJ

,

Burns

S

.

How I manage patients with Wiskott Aldrich syndrome

.

Br J Haematol

.

2019

;

185

(

4

):

647

-

655

.

179.

Candotti

F

.

Clinical manifestations and pathophysiological mechanisms of the Wiskott-Aldrich syndrome

.

J Clin Immunol

.

2018

;

38

(

1

):

13

-

27

.

180.

Lanzi

G

,

Moratto

D

,

Vairo

D

, et al.

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

.

J Exp Med

.

2012

;

209

(

1

):

29

-

34

.

181.

Senthil

S

,

Thrasher

AJ

,

Gilmour

KC

,

Wright

T

,

Wynn

RF

.

Wiskott Aldrich syndrome-2 caused by novel Wiskott Aldrich syndrome protein-interacting protein (WIP) deficiency is associated with juvenile myelomonocytic leukaemia - a case report

.

J Clin Immunol

.

2023

;

43

(

1

):

82

-

84

.

182.

Schwinger

W

,

Urban

C

,

Ulreich

R

, et al.

The phenotype and treatment of WIP deficiency: literature synopsis and review of a patient with pre-transplant serial donor lymphocyte infusions to eliminate CMV

.

Front Immunol

.

2018

;

9

:

2554

.

183.

Al-Mousa

H

,

Hawwari

A

,

Al-Ghonaium

A

, et al.

Hematopoietic stem cell transplantation corrects WIP deficiency

.

J Allergy Clin Immunol

.

2017

;

139

(

3

):

1039

-

1040.e4

.

184.

Volpi

S

,

Cicalese

MP

,

Tuijnenburg

P

, et al.

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

.

J Allergy Clin Immunol

.

2019

;

143

(

6

):

2296

-

2299

.

185.

Antala

S

,

Whitehead

B

,

Melin-Aldana

H

,

Bass

LM

.

ARPC1B mutation manifesting as recurrent hematemesis with metaplasia

.

JPGN Rep

.

2021

;

2

(

3

):

e095

.

186.

Chiriaco

M

,

Ursu

GM

,

Amodio

D

, et al.

Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?

.

Front Immunol

.

2022

;

13

:

919237

.

187.

Zaveleta Martinez

O

,

Fregoso-Zuñiga

AE

,

Razo Requena

C

,

Espinosa Padilla

S

,

Blancas Galicia

L

.

Description of a novel pathogenic variant in the ARPC1B and a severe allergy in two infants

.

Iran J Allergy Asthma Immunol

.

2024

;

23

(

1

):

122

-

126

.

188.

Sorte

HS

,

Osnes

LT

,

Fevang

B

, et al.

A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction

.

Mol Genet Genomic Med

.

2016

;

4

(

6

):

604

-

616

.

189.

Wang

Y

,

Ma

CS

,

Ling

Y

, et al.

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations

.

J Exp Med

.

2016

;

213

(

11

):

2413

-

2435

.

190.

Kurolap

A

,

Eshach Adiv

O

,

Konnikova

L

, et al.

A unique presentation of infantile-onset colitis and eosinophilic disease without recurrent infections resulting from a novel homozygous CARMIL2 variant

.

J Clin Immunol

.

2019

;

39

(

4

):

430

-

439

.

191.

Magg

T

,

Shcherbina

A

,

Arslan

D

, et al.

CARMIL2 deficiency presenting as very early onset inflammatory bowel disease

.

Inflamm Bowel Dis

.

2019

;

25

(

11

):

1788

-

1795

.

192.

Atschekzei

F

,

Jacobs

R

,

Wetzke

M

, et al.

A novel CARMIL2 mutation resulting in combined immunodeficiency manifesting with dermatitis, fungal, and viral skin infections as well as selective antibody deficiency

.

J Clin Immunol

.

2019

;

39

(

3

):

274

-

276

.

193.

Marangi

G

,

Garcovich

S

,

Sante

GD

, et al.

Complex muco-cutaneous manifestations of CARMIL2-associated combined immunodeficiency: a novel presentation of dysfunctional epithelial barriers

.

Acta Derm Venereol

.

2020

;

100

(

1

):

5634

.

194.

Alazami

AM

,

Al-Helale

M

,

Alhissi

S

, et al.

Novel CARMIL2 mutations in patients with variable clinical dermatitis, infections, and combined immunodeficiency

.

Front Immunol

.

2018

;

9

:

203

.

195.

Yonkof

JR

,

Gupta

A

,

Rueda

CM

, et al.

A novel pathogenic variant in CARMIL2 (RLTPR) causing CARMIL2 deficiency and EBV-associated smooth muscle tumors

.

Front Immunol

.

2020

;

11

:

884

.

196.

Kolukisa

B

,

Baser

D

,

Akcam

B

, et al.

Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency

.

Allergy

.

2022

;

77

(

3

):

1004

-

1019

.

197.

Bosa

L

,

Batura

V

,

Colavito

D

, et al.

Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease

.

Sci Rep

.

2021

;

11

(

1

):

5945

.

198.

Vij

M

,

Sivasankaran

M

,

Jayaraman

D

, et al.

CARMIL2 immunodeficiency with Epstein Barr virus associated smooth muscle tumor (EBV-SMT). Report of a case with comprehensive review of literature

.

Fetal Pediatr Pathol

.

2022

;

41

(

6

):

1023

-

1034

.

199.

Zhu

Y

,

Ye

L

,

Huang

H

, et al.

Case report: primary immunodeficiency due to a novel mutation in CARMIL2 and its response to combined immunomodulatory therapy

.

Front Pediatr

.

2022

;

10

:

1042302

.

200.

Maccari

ME

,

Speckmann

C

,

Heeg

M

, et al.

Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations

.

Clin Immunol

.

2019

;

208

:

108228

.

201.

Chaudhry

IUH

,

Alshaer

A

,

Al Jassas

B

, et al.

Bronchopleural fistula in a 5- years old child with novel CARMIL 2 mutation: a rare disease and a rare case

.

Ann Med Surg (Lond)

.

2021

;

66

:

102443

.

202.

Shayegan

LH

,

Garzon

MC

,

Morel

KD

, et al.

CARMIL2-related immunodeficiency manifesting with photosensitivity

.

Pediatr Dermatol

.

2020

;

37

(

4

):

695

-

697

.

203.

Kim

D

,

Uner

A

,

Saglam

A

,

Chadburn

A

,

Crane

GM

.

Peripheral eosinophilia in primary immunodeficiencies of actin dysregulation: a case series of Wiskott-Aldrich syndrome, CARMIL2 and DOCK8 deficiency and review of the literature

.

Ann Diagn Pathol

.

2019

;

43

:

151413

.

204.

Shamriz

O

,

Simon

AJ

,

Lev

A

, et al.

Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation

.

Clin Exp Immunol

.

2020

;

200

(

3

):

215

-

227

.

205.

Zamani

R

,

Zoghi

S

,

Shahkarami

S

, et al.

Novel CARMIL2 (RLTPR) mutation presenting with hyper-IgE and eosinophilia: a case report

.

Endocr Metab Immune Disord Drug Targets

.

2024

;

24

(

5

):

596

-

605

.

206.

Aydin

SE

,

Kilic

SS

,

Aytekin

C

, et al.

DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients

.

J Clin Immunol

.

2015

;

35

(

2

):

189

-

198

.

207.

Aydin

SE

,

Freeman

AF

,

Al-Herz

W

, et al.

Hematopoietic stem cell transplantation as treatment for patients with DOCK8 deficiency

.

J Allergy Clin Immunol Pract

.

2019

;

7

(

3

):

848

-

855

.

208.

Kono

A

,

Wakamatsu

M

,

Umezawa

Y

, et al.

Successful treatment of DOCK8 deficiency by allogeneic hematopoietic cell transplantation from alternative donors

.

Int J Hematol

.

2023

;

118

(

4

):

519

-

525

.

209.

Ravendran

S

,

Hernández

SS

,

König

S

,

Bak

RO

.

CRISPR/Cas-Based Gene Editing Strategies for DOCK8 Immunodeficiency Syndrome

.

Front Genome Ed

.

2022

;

4

:

793010

.

210.

Dasouki

M

,

Okonkwo

KC

,

Ray

A

, et al.

Deficient T cell receptor excision circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening

.

Clin Immunol

.

2011

;

141

(

2

):

128

-

132

.

211.

Millstead

J

,

Kamat

A

,

Duffner

U

, et al.

WD repeat domain 1 (WDR1) deficiency presenting as a cause of infantile inflammatory bowel disease

.

J Pediatr Gastroenterol Nutr

.

2020

;

71

(

4

):

e113

-

e117

.

212.

Yi

W

,

Gupta

S

,

Ricker

E

, et al.

The mTORC1-4E-BP-eIF4E axis controls de novo Bcl6 protein synthesis in T cells and systemic autoimmunity

.

Nat Commun

.

2017

;

8

(

1

):

254

.

213.

Ravichandran

Y

,

Hänisch

J

,

Murray

K

, et al.

The distinct localization of CDC42 isoforms is responsible for their specific functions during migration

.

J Cell Biol

.

2024

;

223

(

3

):

e202004092

.

214.

Yates

TM

,

Turner

CL

,

Firth

HV

,

Berg

J

,

Pilz

DT

.

Baraitser-Winter cerebrofrontofacial syndrome

.

Clin Genet

.

2017

;

92

(

1

):

3

-

9

.

215.

Baumann

M

,

Beaver

EM

,

Palomares-Bralo

M

, et al.

Further delineation of putative ACTB loss-of-function variants: a 4-patient series

.

Hum Mutat

.

2020

;

41

(

4

):

753

-

758

.

216.

Roberts

AE

. Noonan Syndrome. In:

Adam

MP

,

Feldman

J

,

Mirzaa

GM

, eds.

GeneReviews

.

University of Washington

;

Initial Posting: November 15, 2001; Last Revision: February 17, 2022

:

27

.

217.

van der Burgt

I

.

Noonan syndrome

.

Orphanet J Rare Dis

.

2007

;

2

:

4

.

218.

Briggs

BJ

,

Dickerman

JD

.

Bleeding disorders in Noonan syndrome

.

Pediatr Blood Cancer

.

2012

;

58

(

2

):

167

-

172

.

219.

Poulter

NS

,

Thomas

SG

.

Cytoskeletal regulation of platelet formation: coordination of F-actin and microtubules

.

Int J Biochem Cell Biol

.

2015

;

66

:

69

-

74

.

220.

Lehman

H

.

Skin manifestations of primary immune deficiency

.

Clin Rev Allergy Immunol

.

2014

;

46

(

2

):

112

-

119

.

221.

Johnston

JJ

,

Wen

KK

,

Keppler-Noreuil

K

, et al.

Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome

.

Hum Mutat

.

2013

;

34

(

9

):

1242

-

1249

.

222.

McCullagh

M

,

Zeczycki

TN

,

Kariyawasam

CS

, et al.

What is allosteric regulation? Exploring the exceptions that prove the rule

.

J Biol Chem

.

2024

;

300

(

3

):

105672

.

223.

Notarangelo

LD

.

Primary immunodeficiencies

.

J Allergy Clin Immunol

.

2010

;

125

(

2 suppl 2

):

S182

-

S194

.

224.

Takaya

K

,

Okabe

K

,

Ishigami

A

, et al.

Actin cable formation and epidermis-dermis positional relationship during complete skin regeneration

.

Sci Rep

.

2022

;

12

(

1

):

15913

.

225.

Zhou

K

,

Muroyama

A

,

Underwood

J

, et al.

Actin-related protein2/3 complex regulates tight junctions and terminal differentiation to promote epidermal barrier formation

.

Proc Natl Acad Sci U S A

.

2013

;

110

(

40

):

E3820

-

E3829

.

226.

Mallhi

KK

,

Petrovic

A

,

Ochs

HD

.

Hematopoietic stem cell therapy for Wiskott-Aldrich syndrome: improved outcome and quality of life

.

J Blood Med

.

2021

;

12

:

435

-

447

.

227.

Cavannaugh

C

,

Ochs

HD

,

Buchbinder

D

.

Diagnosis and clinical management of Wiskott-Aldrich syndrome: current and emerging techniques

.

Expert Rev Clin Immunol

.

2022

;

18

(

6

):

609

-

623

.