Table 1.

Genes mutated in human syndromic and non-syndromic congenital neutropenias, not including some genes mutated in combined immunodeficiencies. The references given here are to papers that identified the initially discovered mutation(s). Other papers describing the clinical phenotypes and additional mutations are cited in the text. Inheritance: AD= autosomal dominant; AR = autosomal recessive; XLR= X-linked recessive; M = mitochondrial. Gene symbols are the current HUGO Gene Nomenclature Committee-approved symbols with the exception of p14 that has no approved symbols; therefore, gene symbols may differ from gene names used in the cited papers.

Disease	Inheritance	Mutated Gene	Reference(s)	comments
Severe Congenital Neutropenia (SCN)	AD	ELA2	[32]	Mostly missense mutations
SCN	AD	GFII	[33]	Missense mutations in the zinc finger domain
SCN	XLR	WAS	[34, 35•]	Missense mutations that lead to constitutive activation
SCN	AR	HAX1	[27••]
Cyclic neutropenia	AD	ELA2	[36]	Mutations mostly different from those causing SCN
Glycogen storage disease type Ib	AR	SLC37A4	[37]
Hermansky-Pudlak syndrome, type 2	AR	AP3B1	[38]	Other types of Hermansky-Pudlak syndrome do not include neutropenia
Griscelli syndrome, type 2	AR	RAB27A	[39]	Other types of Griscelli syndrome do not include neutropenia
Chediak-Higashi syndrome	AR	LYST	[40–42]
p14 deficiency	AR	p14	[28••]
WHIM syndrome	AD	CXCR4	[43]	Mutations truncate the cytoplasmic tail of the protein
Cohen syndrome	AR	VPS13B	[44]
Shwachman-Diamond syndrome	AR	SBDS	[45]	Most patients have two compound heterozygous mutations
Barth syndrome	XLR	TAZ	[46]
Cartilage hair hypoplasia	AR	RMRP	[47]	This is an RNA gene that does not code for a protein.
Pearson’s syndrome	M	Mitochondrial deletion	[48]	Mutations in mitochondrial DNA