Table 1. Organ involvement in congenital... | American Society of Hematology

Table 1.

Organ involvement in congenital neutropenia (CN) syndromes.

CN variant	Congenital neutropenia	Osteopenia	Skeletal system (growth delay/ dysmorphic features)	Skin/hair	Neurological system	Cardiovascular system	Urogenital system	Gastrointestinal system	Endocrine system	Adaptive immune system	Mutated gene
SCN-ELA2	▪	▪									ELA2
SCN-GFI1	▪	▪								▪	GFI1
SCN-WAS	▪									▪	WAS
SCN-HAX1	▪	▪			▪						HAX1
SCN-AK2	▪				▪					▪	AK2
Glycogenosis Ib	▪	▪	▪			▪		▪	▪		SLC37A4
G6PC3 deficiency	▪		▪	▪		▪	▪	▪			G6PC3
Barth syndrome	▪					▪					TAZ
SBDS	▪	▪	▪		▪	▪		▪		▪	SBDS
CHH	▪	▪	▪	▪	▪			▪		▪	RBDS
CHS	▪		▪	▪	▪					▪	LYST
GS type II	▪			▪						▪	RAB27A
HPS II	▪		▪	▪						▪	AP3B1
P14-deficiency	▪		▪	▪						▪	ROBL3
Cohen syndrome	▪		▪	▪							COH1
Poikiloderma with neutropenia	▪		▪	▪							unknown
Neutropenia-CMT-II	▪				▪						DNM2
Pearson syndrome	▪				▪	▪	▪	▪	▪

CN variant	Congenital neutropenia	Osteopenia	Skeletal system (growth delay/ dysmorphic features)	Skin/hair	Neurological system	Cardiovascular system	Urogenital system	Gastrointestinal system	Endocrine system	Adaptive immune system	Mutated gene
SCN-ELA2	▪	▪									ELA2
SCN-GFI1	▪	▪								▪	GFI1
SCN-WAS	▪									▪	WAS
SCN-HAX1	▪	▪			▪						HAX1
SCN-AK2	▪				▪					▪	AK2
Glycogenosis Ib	▪	▪	▪			▪		▪	▪		SLC37A4
G6PC3 deficiency	▪		▪	▪		▪	▪	▪			G6PC3
Barth syndrome	▪					▪					TAZ
SBDS	▪	▪	▪		▪	▪		▪		▪	SBDS
CHH	▪	▪	▪	▪	▪			▪		▪	RBDS
CHS	▪		▪	▪	▪					▪	LYST
GS type II	▪			▪						▪	RAB27A
HPS II	▪		▪	▪						▪	AP3B1
P14-deficiency	▪		▪	▪						▪	ROBL3
Cohen syndrome	▪		▪	▪							COH1
Poikiloderma with neutropenia	▪		▪	▪							unknown
Neutropenia-CMT-II	▪				▪						DNM2
Pearson syndrome	▪				▪	▪	▪	▪	▪