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Table 2 Main features and genetic subtypes of congenital neutropenia

From: Congenital neutropenia: diagnosis, molecular bases and patient management

System Hematological or associated features Disease Gene
Blood/bone marrow maturation Maturation arrest ELANE
HAX 1
WASP
Neutropenia G6PC3
GCSF receptor
ELANE
HAX1
WASP
G6PC3
Extra cellular domain of CSF3R
  No maturation arrest GSDIB
WHIM
Shwachman Diamond disease
Cohen disease
Hermansky Pudlak type 2
G6PC T
CXCR4
SBDS
VPS13B
AP3B1
  Myelokathexis WHIM CXCR4
Pancreas External pancreatic insufficiency Shwachman Diamond disease SBDS
Eyes Congenital cataract Charcot Marie Tooth Dynamin 2
  retinochoroidal dystrophy Cohen disease VPS13B
Heart Heart: arrythmias Neutropenia G6PC3 G6PC3
  Dilated Cardiomyopathy Barth' diseases Tafazin
  Cardiomyopathy Shwachman Diamond disease SBDS
  Various cardiac abnormalities Shwachman Diamond disease WHIM Neutropenia G6PC3 SBDS
CXCR4
G6PC3
Skin Skin xerosis eczema Shwachman Diamond disease SBDS
  Skin: prominent superficial veins Neutropenia G6PC3 G6PC3
  Skin poikilodermia SCN with poiikiloderma Type cleruzio 16ORF57
  Skin: Partial or complete albinism Hermansky Pudlak type 2
AP14 defect
Chediak Higashi disease
Griscelli disease
AP3B1
AP14
LYST
RAB27A
  Hair: fine, sparse and light-colored Cartilage Hair hypoplasia RMRP
Bone Metaphyseal dysplasia Shwachman Diamond disease
Cartilage-hair hypoplasia
SBDS
RMRP
  Facial Dysmorphia Cohen disease VPS13B
Central nervous system Mental retardation Kostmann's disease
Shwachman Diamond disease
Cohen disease
Hax 1
SBDS
VPS13B
Muscle Weakness Neutropenia G6PC3
Axonal Charcot Marie Tooth disease
G6PC3
Dynamin 2
Metabolic pathway Fasting intolerance and glycogenosis Glycogen storage disease type Ib SLC37A4
Inner ear Inner ear defect GFI 1/severe chronic neutropenia
Reticular dysgenesia
GFI1
AK2
Urogenital tract Uropathy Neutropenia G6PC3 G6PC3
  Cryptorchidism Cohen disease
Neutropenia G6PC3
VPS13B
G6PC3