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 |
| Â | No maturation arrest | GSDIB WHIM Shwachman Diamond disease Cohen disease Hermansky Pudlak type 2 | G6PC T CXCR4 SBDS VPS13B AP3B1 |
| Â | Myelokathexis | WHIM | CXCR4 |
Pancreas | External pancreatic insufficiency | Shwachman Diamond disease | SBDS |
Eyes | Congenital cataract | Charcot Marie Tooth | Dynamin 2 |
| Â | retinochoroidal dystrophy | Cohen disease | VPS13B |
Heart | Heart: arrythmias | Neutropenia G6PC3 | G6PC3 |
| Â | Dilated Cardiomyopathy | Barth' diseases | Tafazin |
| Â | Cardiomyopathy | Shwachman Diamond disease | SBDS |
| Â | Various cardiac abnormalities | Shwachman Diamond disease WHIM Neutropenia G6PC3 | SBDS CXCR4 G6PC3 |
Skin | Skin xerosis eczema | Shwachman Diamond disease | SBDS |
| Â | Skin: prominent superficial veins | Neutropenia G6PC3 | G6PC3 |
| Â | Skin poikilodermia | SCN with poiikiloderma Type cleruzio | 16ORF57 |
| Â | Skin: Partial or complete albinism | Hermansky Pudlak type 2 AP14 defect Chediak Higashi disease Griscelli disease | AP3B1 AP14 LYST RAB27A |
| Â | Hair: fine, sparse and light-colored | Cartilage Hair hypoplasia | RMRP |
Bone | Metaphyseal dysplasia | Shwachman Diamond disease Cartilage-hair hypoplasia | SBDS RMRP |
| Â | 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 |
| Â | Cryptorchidism | Cohen disease Neutropenia G6PC3 | VPS13B G6PC3 |