Congenital Defects in Neutrophil Dynamics

Table 1

Congenital defects in neutrophil dynamics.

Disease	Gene	Target	Neutropenia	Chemotaxis	Adhesion	Superoxide	Phagocytosis	Infections	Inheritance	Mutations	Other manifestations
A mutation of 𝛽-actin associated with neutrophil dysfunction	𝛽-Actin	Cytoskeleton		+		+	+	+	AD	E364K	Thrombocytopenia, short stature, mental retardation
X-linked neutropenia	WASp		+		+	+	+	+	XL	L270P; S272P; I276S; I294T	Lymphopenia
Neutrophil immunodeficiency syndrome	Rac2			+	+	+	+	+	AD	D57N
Neutrophil actin dysfunction (NAD); and NAD47/89	?; LSP1			+; +	+; +		+; +	+; +	AR; AR
Kostmann disease/ Severe congenital neutropenia 3 (SCN3)	HAX1	(Cytoskeleton/; Apoptosis)	+	?				+	AR	W44X (72%) and other mutations	Neurological impairments
Leukocyte adhesion deficiency (LAD)	LAD I: 𝛽2 integrin family; LAD II: SLC35C1; LAD III: FERMT3	Cell adhesion		+	+			+	AR	various	Leukocytosis; LAD II: short stature, mental retardation; LAD III: bleeding
WHIM syndrome	CXCR4		+	+				+	AD	Truncations of C-terminus	B cell lymphopenia and hypo-gammaglobulinemia
Chédiak-Higashi syndrome	LYST	Vesicular; transport,; biogenesis,; sorting	+	+				+	AR	various	Hypopigmentation, Neuropathies, immunodeficiency, hemophagocytic lymphohistiocytosis
Griscelli syndrome type 2	RAB27A		+					+	AR	various	Hypopigmentation, immunodeficiency, hemophagocytic lymphohistiocytosis
P14-deficiency	MAPBPIP		+					+	AR	3’UTR	Hypopigmentation, immunodeficiency, short stature
Hermansky-Pudlak syndrome type 2	AP3B1		+					+	AR	various	Hypopigmentation, platelet, immunodeficiency
Charcot-Marie-Tooth disease, dominant intermediate B; (CMTDIB)	DNM2		+						AD	various	Limb weakness and atrophy
Cohen syndrome	VPS13B		+		+			+	AR	various	Mental retardation, Microcephaly, hypotonia
VPS 45 mutation (SCN5)	VPS45		+	+		+		+	AR	T224N; E238K	Bone marrow fibrosis; nephromegaly
Severe congenital neutropenia 1 (SCN1)	ELANE	Other	+					+	AD	various
Severe congenital neutropenia 2 (SCN2)	GFI1		+					+	AD	N382S; K403R	Lymphopenia
Severe congenital neutropenia 4 (SCN4)	G6PC3		+	+		+		+	AR	various	Heart defects, urogenital defects
Glycogen storage; disease type 1b (GSD1B)	G6PT1		+	+		+		+	AR	various	Impaired glucose homeostasis
Chronic granulomatous; disease (CGD)	𝑔𝑝91^𝑝ℎ𝑜𝑥  𝑔𝑝22^𝑝ℎ𝑜𝑥  𝑝47^𝑝ℎ𝑜𝑥; 𝑝67^𝑝ℎ𝑜𝑥; 𝑝40^𝑝ℎ𝑜𝑥			+		+		+	XL; AR; AR; AR; AR	various
Papillon-Lefèvre syndrome (PLS)	CTSC			+				+	AR	various	Hyperkeratosis; Periodontitis
Shwachman-Diamond syndrome (SDS)	SBDS		+	+				+	AR	various	Pancreatic insufficiency, short stature, hematologic defects

AR: autosomal recessive, AD: autosomal dominant, XL: X-linked.