Table 1 Monogenic congenital neutropenia
Subgroup of neutropenia | Disease name | OMIM code | Hematological manifestations | Extrahematological manifestations | Inheritance | Gene | Normal function of the gene |
|---|---|---|---|---|---|---|---|
Congenital neutropenia without extrahematopoietic manifestations | Severe congenital neutropenia-cyclic neutropenia | 202700-162800 | Severe and permanent maturation arrest-intermittent-cyclic arrest | No | Dominant | ELANE | Protease activity antagonism with alpha 1 antitrypsin |
Congenital neutropenia with extrahematopoietic manifestations | Kostmann disease | 610738 | Maturation arrest | SNC mental retardation, seizure | Recessive | HAX1 | Control of apoptosis |
Shwachman-Diamond | 260400 | Mild neutropenia, dysgranulopoiesis, mild dysmegacariocytopoiesis | Exocrine pancreas deficiency chondrodysplasia mental retardation, cardiomyopathy | Recessive | SDB5 | Ribosomal protein regulator of RNA expression | |
Severe congenital neutropenia | 612541 | Maturation arrest | Increased visibility of superficial veins, cardiac and urogenital defects | Recessive | G6PC3 | Glucose 6 -phosphatase complex: catalytic unit | |
Barth disease | 302060 | No maturation arrest | Hypertrophy Cardiomyopathy Growth retardation | X linked | TAZ | Tafazzin: phospholipid membrane homeostasis | |
Hermansky-Pudlak syndrome type 2 | 608233 | No maturation arrest | Albinism | Recessive | AP3B1 | Cargo protein:/ER trafficking with ELANE interaction | |
Poikilodermia type Clericuzio | 604173 | No maturation arrest, minor dysgranulopoetic features | Skin poikilodermia | Recessive | C160RF57 | Not known | |
Glycogen storage type Ib | 232220 | No maturation arrest | Hypoglicemia, fasting lactic acidosis, hyperlipidemia, glycogen overload of the liver | Recessive | SLC37A4 | Glucose 6- phosphate complex: trans ER transporter | |
Congenital neutropenia without extrahematopoietic manifestations and with innate or adaptive deficiency | Severe congenital neutropenia | 202700 | Permanent, severe, or mild sometimes maturation arrest | Lymphopenia | Dominant | GFI1 | Transcription factor encoding a regulator of ELA2 |
Severe congenital neutropenia | 300299 | Severe permanent maturation arrest | Monocytopenia | X linked | WAS | Regulator of actin cytoskeleton | |
WHIM | 193670 | Severe permanent no maturation arrest myelokathexis | Warts, hypo-gammaglobulinemia, infections and myelokathexis syndrome | Dominant | CXCR4 | Chemokine receptor (CXCL12) |