Table 1.
Congenital neutropenia disorders.
| Disease | Genetic defect | Inheritance | Immunologic phenotype | Other manifestations | Reference |
|---|---|---|---|---|---|
| SCN type 1 | ELANE | AD | Chronic or cyclic neutropenia | (22) | |
| SCN2 | GFI1 | AD | Neutropenia, lymphopenia | (24) | |
| SCN3 | HAX1 | AR | Neutropenia | Neurologic impairment | (25) |
| SCN4 | G6PC3 | AR | Neutropenia Thrombocytopenia |
Congenital heart defectsFacial dysmorphism increased visibility of superficial veins urogenital malformations endocrine abnormalities hearing loss skin hyperelasticity | (26) |
| XL congenital neutropenia | WAS | XL | Neutropenia Lymphopenia, myelodysplasia |
(27) | |
| Congenital neutropenia and hypopigmentation disorders | |||||
| Chediak–Higashi syndrome | LYST | AR | Neutropenia Natural killer (NK) cell dysfunction |
Oculocutaneous albinismNeurologic impairment HLH | (28) |
| Hermansky–Pudlak syndrome type 2 | AP3B1 | AR | Neutropenia T and NK cell dysfunction |
Oculocutaneous albinism | (29, 30) |
| Griscelli syndrome type 2 | RAB27A | AR | Neutropenia NK cell dysfunction |
Oculocutaneous albinism HLH | (31) |
| Other syndromes with neutropenia as a key feature | |||||
| Reticular dysgenesis | AK2 | AR | Neutropenia Severe lymphopenia |
Sensorineural hearing loss | (32) |
| Shwachman–Diamond syndrome | SBDS | AR | Neutropenia | Exocrine pancreatic insufficiency Skeletal dysplasia Liver and heart disease |
(33) |
| Poikiloderma with neutropenia | C16ORF57 | AR | Neutropenia | Poikiloderma, increased photosensitivity | (34) |
| Cartilage-Hair hypoplasia | RMRP | AR | Neutropenia T and NK cell lymphopenia |
Autoimmune cytopenias Skeletal dysplasia Dwarfism |
(35) |
| XL hyper IgM syndrome | CD40L | XL | Intermittent neutropenia Defective B cell class switching T and B cell defects |
(36) | |
| XL agammaglobulinemia | BTK | XL | Low to absent B cells Hypogammaglobulinemia |
(37) | |
| Barth syndrome | G4.5/TAZ | XL | Neutropenia | Cardioskeletal abnormalities Myopathy Growth retardation |
(38) |
| Cohen syndrome | VPS13B/COH | AR | Intermittent neutropenia | Psychomotor retardation Skeletal dysplasia hyptonia |
(39) |
| Pearson syndrome | Mitochondrial DNA | Neutropenia | Bone marrow failure Exocrine pancreatic insufficiency Endocrine abnormalities Neuromuscular degeneration |
(40) | |
AD, autosomal dominant; AR, autosomal recessive; G6PC3, glucose-6-phosphatase catalytic subunit 3; WAS, Wiskott–Aldrich syndrome; XL, X-linked; BTK, Bruton’s tyrosine kinase.