Molecular diagnostics 101: how to use genetic tests in classical hematology Available to Purchase

2.

Similuk

M

,

Kuijpers

T

.

Nature and nurture: understanding phenotypic variation in inborn errors of immunity

.

Front Cell Infect Microbiol

.

2023

;

13

:

1183142

.

3.

Chen

L

,

Mamutova

A

,

Kozlova

A

, et al.

Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2

.

J Allergy Clin Immunol

.

2023

;

152

(

3

):

771

-

782

.

4.

Hafezi

N

,

Zaki-Dizaji

M

,

Nirouei

M

, et al.

Clinical, immunological, and genetic features in 780 patients with autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like diseases: a systematic review

.

Pediatr Allergy Immunol

.

2021

;

32

(

7

):

1519

-

1532

.

5.

Cooper

MA

.

Somatic mosaicism in genetic errors of immunity

.

J Allergy Clin Immunol

.

2025

;

155

(

3

):

759

-

767

.

6.

Torreggiani

S

,

Castellan

FS

,

Aksentijevich

I

,

Beck

DB

.

Somatic mutations in autoinflammatory and autoimmune disease

.

Nat Rev Rheumatol

.

2024

;

20

(

11

):

683

-

698

.

7.

Revy

P

,

Kannengiesser

C

,

Fischer

A.

Somatic genetic rescue in Mendelian haematopoietic diseases

.

Nat Rev Genet

.

2019

;

20

(

10

):

582

-

598

.

8.

Lim

J

,

Ross

DM

,

Brown

AL

,

Scott

HS

,

Hahn

CN

.

Germline genetic variants that predispose to myeloproliferative neoplasms and hereditary myeloproliferative phenotypes

.

Leuk Res

.

2024

;

146

:

107566

.

9.

Vorsteveld

EE

,

Hoischen

A

,

van der Made

CI

.

Next-generation sequencing in the field of primary immunodeficiencies: current yield, challenges, and future perspectives

.

Clin Rev Allergy Immunol

.

2021

;

61

(

2

):

212

-

225

.

10.

Theda

C

,

Hwang

SH

,

Czajko

A

,

Loke

YJ

,

Leong

P

,

Craig

JM

.

Quantitation of the cellular content of saliva and buccal swab samples

.

Sci Rep

.

2018

;

8

(

1

):

6944

.

11.

Richards

S

,

Aziz

N

,

Bale

S

, et al;

ACMG Laboratory Quality Assurance Committee

.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

.

Genet Med

.

2015

;

17

(

5

):

405

-

424

.

12.

ClinGen Consortium

.

The clinical genome resource (ClinGen): advancing genomic knowledge through global curation

.

Genet Med

.

2025

;

27

(

1

):

101228

.

13.

Wigby

KM

,

Brockman

D

,

Costain

G

, et al.

Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders

.

NPJ Genom Med

.

2024

;

9

(

1

):

15

.

14.

Bachoo

S

,

Gibbons

RJ

.

Germline and gonosomal mosaicism in the ATR-X syndrome

.

Eur J Hum Genet

.

1999

;

7

(

8

):

933

-

936

.

15.

Colden

MA

,

Kumar

S

,

Munkhbileg

B

,

Babushok

DV

.

Insights into the emergence of paroxysmal nocturnal hemoglobinuria

.

Front Immunol

.

2021

;

12

:

830172

.

16.

Krawitz

PM

,

Höchsmann

B

,

Murakami

Y

, et al.

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT

.

Blood

.

2013

;

122

(

7

):

1312

-

1315

.

17.

Gutierrez-Rodrigues

F

,

Sahoo

SS

,

Wlodarski

MW

,

Young

NS

.

Somatic mosaicism in inherited bone marrow failure syndromes

.

Best Pract Res Clin Haematol

.

2021

;

34

(

2

):

101279

.

18.

Jyonouchi

S

,

Forbes

L

,

Ruchelli

E

,

Sullivan

KE

.

Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum—a single-center pediatric experience

.

Pediatr Allergy Immunol

.

2011

;

22

(

3

):

313

-

319

.

19.

Qi

A

,

Zhou

H

,

Zhou

Z

, et al.

Telomerase activity increased and telomere length shortened in peripheral blood cells from patients with immune thrombocytopenia

.

J Clin Immunol

.

2013

;

33

(

3

):

577

-

585

.

20.

Morgado-Palacin

L

,

Varetti

G

,

Llanos

S

,

Gómez-López

G

,

Martinez

D

,

Serrano

M.

Partial loss of Rpl11 in adult mice recapitulates Diamond-Blackfan anemia and promotes lymphomagenesis

.

Cell Rep

.

2015

;

13

(

4

):

712

-

722

.

21.

Kennedy

AL

,

Myers

KC

,

Bowman

J

, et al.

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

.

Nat Commun

.

2021

;

12

(

1

):

1334

.

22.

Kirwan

M

,

Walne

AJ

,

Plagnol

V

, et al.

Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia

.

Am J Hum Genet

.

2012

;

90

(

5

):

888

-

892

.

23.

Glembotsky

AC

,

Marin Oyarzún

CP

,

De Luca

G

, et al.

First description of revertant mosaicism in familial platelet disorder with predisposition to acute myelogenous leukemia: correlation with the clinical phenotype

.

Haematologica

.

2020

;

105

(

10

):

e535

.

24.

Sahoo

SS

,

Pastor

VB

,

Goodings

C

, et al;

European Working Group of MDS in Children (EWOG-MDS)

.

Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

.

Nat Med

.

2021

;

27

(

10

):

1806

-

1817

.

25.

Benavides-Nieto

M

,

Adam

F

,

Martin

E

, et al.

Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency

.

J Clin Invest

.

2024

;

134

(

17

):

e169994

.

26.

Hirschhorn

R

,

Yang

DR

,

Israni

A

,

Huie

ML

,

Ownby

DR

.

Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery

.

Am J Hum Genet

.

1994

;

55

(

1

):

59

-

68

.

27.

Trotta

L

,

Martelius

T

,

Siitonen

T

, et al.

ADA2 deficiency: clonal lymphoproliferation in a subset of patients

.

J Allergy Clin Immunol

.

2018

;

141

(

4

):

1534

-

1537

.

e81537e8

.

28.

Liongue

C

,

Ward

AC

.

Myeloproliferative neoplasms: diseases mediated by chronic activation of signal transducer and activator of transcription (STAT) proteins

.

Cancers (Basel)

.

2024

;

16

(

2

):

313

.

29.

Gruber

CN

,

Calis

JJA

,

Buta

S

, et al.

Complex autoinflammatory syndrome unveils fundamental principles of JAK1 kinase transcriptional and biochemical function

.

Immunity

.

2020

;

53

(

3

):

672

-

684.e11

.

30.

Hsu

AP

,

Sowerwine

KJ

,

Lawrence

MG

, et al.

Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism

.

J Allergy Clin Immunol

.

2013

;

131

(

6

):

1586

-

1593

.

31.

Materna-Kiryluk

A

,

Pollak

A

,

Gawalski

K

, et al.

Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy

.

Hum Mol Genet

.

2021

;

30

(

3-4

):

226

-

233

.

32.

Ma

CA

,

Xi

L

,

Cauff

B

, et al.

Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea

.

Blood

.

2017

;

129

(

5

):

650

-

653

.

33.

Pellé

O

,

Moreno

S

,

Lorenz

MR

, et al.

Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome

.

J Allergy Clin Immunol

.

2024

;

153

(

1

):

203

-

215

.

34.

Dowdell

KC

,

Niemela

JE

,

Price

S

, et al.

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome

.

Blood

.

2010

;

115

(

25

):

5164

-

5169

.

35.

Wolach

B

,

Scharf

Y

,

Gavrieli

R

,

de Boer

M

,

Roos

D.

Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB

.

Blood

.

2005

;

105

(

1

):

61

-

66

.

36.

Kawasaki

Y

,

Oda

H

,

Ito

J

, et al.

Identification of a high-frequency somatic NLRC4 mutation as a cause of autoinflammation by pluripotent cell-based phenotype dissection

.

Arthritis Rheumatol

.

2017

;

69

(

2

):

447

-

459

.

37.

Aluri

J

,

Bach

A

,

Kaviany

S

, et al.

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function

.

Blood

.

2021

;

137

(

18

):

2450

-

2462

.

38.

Beck

DB

,

Ferrada

MA

,

Sikora

KA

, et al.

Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease

.

N Engl J Med

.

2020

;

383

(

27

):

2628

-

2638

.

39.

Montano

C

,

Britton

JF

,

Harris

JR

, et al.

Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1

.

Am J Med Genet A

.

2022

;

188

(

7

):

2217

-

2225

.

40.

Hsu

AP

,

Johnson

KD

,

Falcone

EL

, et al.

GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome

.

Blood

.

2013

;

121

(

19

):

3830

-

3837

, S1-S7.