Table 1. Selected neutropenic syndromes.... | American Society of Hematology

Table 1.

Selected neutropenic syndromes.

Syndrome	Inheritance	Gene	Clinical Features	Animal Model	Animal  Model Phenotype
Abbreviations: SCN, severe congenital neutropenia; MDS, myelodysplastic syndrome; AML, acute myeloid leukemia; G-CSF, granulocyte colony-stimulating factor; COPD, chronic obstructive pulmonary disease
Cyclic   neutropenia	Autosomal   Dominant	ELA2	Alternate 21 day cycling of   neutrophils and monocytes	Mouse   knock-out	No neutropenia Resistance to  smoking-induced COPD Vulnerability to infection
	Autosomal   Dominant	ELA2   (35–84%)	Static neutropenia MDS and AML	Mouse knock-in  (V72M)	No obvious phenotype
SCN	Autosomal   Dominant	Gfi1   (rare)	Static neutropenia Circulating myeloid progenitors Lymphopenia	Mouse  knock-out	Resembles human Gfi1 deficiency
	Sex-linked	wASP   (rare)	Neutropenic variant of   Wiskott-Aldrich syndrome	Mouse   knock-out	Lymphopenia Thrombocytopenia Colitis
	Autosomal   Dominant	G-CSFR   (rare)	G-CSF refractory neutropenia No documented MDS or AML	Mouse   knock-out	Moderate neutropenia Decreased progenitors in  bone marrow Increased apoptosis in  circulating neutrophils
Kostmann   syndrome	Autosomal   Recessive	Unknown	Static neutropenia without  MDS or AML
Hermansky   Pudlak   syndrome,   type 2	Autosomal   Recessive	AP3B1	SCN Platelet dense body defects Oculocutaneous albinism	Gray collie   syndrome   of dogs	14-day cycles of pancytopenia Coat and eye color changes
Hermansky   Pudlak   syndrome,   type 2	Autosomal   Recessive	AP3B1	SCN Platelet dense body defects Oculocutaneous albinism	Mouse pearl mutation Mouse   knockout	No documented neutropenia Platelet dense body defects Coat and eye color changes
Chediak-Higashi syndrome	Autosomal Recessive	LYST	Neutropenia Oculocutaneous albinism Giant lysosomes Lymphohistiocytic infiltration Impaired platelet function	Blue-smoke  Persian cat	Neutropenia Coat and eye color changes Giant lysosomes Lymphohistiocytic infiltration Impaired platelet function
Chediak-Higashi syndrome	Autosomal Recessive	LYST		Mouse  beige  mutation Cattle Aleutian mink	No neutropenia Coat and eye color changes Giant lysosomes Lymphohistiocytic infiltration Impaired platelet function
Barth   syndrome	Sex-linked	TAZ	Neutropenia, often cyclic Dilated cardiomyopathy Methylglutaconic-aciduria
Cohen   syndrome	Autosomal   Recessive	COH1	Mental retardation Neutropenia Dysmorphism

Syndrome	Inheritance	Gene	Clinical Features	Animal Model	Animal  Model Phenotype
Abbreviations: SCN, severe congenital neutropenia; MDS, myelodysplastic syndrome; AML, acute myeloid leukemia; G-CSF, granulocyte colony-stimulating factor; COPD, chronic obstructive pulmonary disease
Cyclic   neutropenia	Autosomal   Dominant	ELA2	Alternate 21 day cycling of   neutrophils and monocytes	Mouse   knock-out	No neutropenia Resistance to  smoking-induced COPD Vulnerability to infection
	Autosomal   Dominant	ELA2   (35–84%)	Static neutropenia MDS and AML	Mouse knock-in  (V72M)	No obvious phenotype
SCN	Autosomal   Dominant	Gfi1   (rare)	Static neutropenia Circulating myeloid progenitors Lymphopenia	Mouse  knock-out	Resembles human Gfi1 deficiency
	Sex-linked	wASP   (rare)	Neutropenic variant of   Wiskott-Aldrich syndrome	Mouse   knock-out	Lymphopenia Thrombocytopenia Colitis
	Autosomal   Dominant	G-CSFR   (rare)	G-CSF refractory neutropenia No documented MDS or AML	Mouse   knock-out	Moderate neutropenia Decreased progenitors in  bone marrow Increased apoptosis in  circulating neutrophils
Kostmann   syndrome	Autosomal   Recessive	Unknown	Static neutropenia without  MDS or AML
Hermansky   Pudlak   syndrome,   type 2	Autosomal   Recessive	AP3B1	SCN Platelet dense body defects Oculocutaneous albinism	Gray collie   syndrome   of dogs	14-day cycles of pancytopenia Coat and eye color changes
Hermansky   Pudlak   syndrome,   type 2	Autosomal   Recessive	AP3B1	SCN Platelet dense body defects Oculocutaneous albinism	Mouse pearl mutation Mouse   knockout	No documented neutropenia Platelet dense body defects Coat and eye color changes
Chediak-Higashi syndrome	Autosomal Recessive	LYST	Neutropenia Oculocutaneous albinism Giant lysosomes Lymphohistiocytic infiltration Impaired platelet function	Blue-smoke  Persian cat	Neutropenia Coat and eye color changes Giant lysosomes Lymphohistiocytic infiltration Impaired platelet function
Chediak-Higashi syndrome	Autosomal Recessive	LYST		Mouse  beige  mutation Cattle Aleutian mink	No neutropenia Coat and eye color changes Giant lysosomes Lymphohistiocytic infiltration Impaired platelet function
Barth   syndrome	Sex-linked	TAZ	Neutropenia, often cyclic Dilated cardiomyopathy Methylglutaconic-aciduria
Cohen   syndrome	Autosomal   Recessive	COH1	Mental retardation Neutropenia Dysmorphism