TABLE 1.
Neutrophils in selected primary immunodeficiencies
| Condition | Cause | Inheritance | Numbers | Functional defects | Outcome | Reference |
|---|---|---|---|---|---|---|
| Congenital neutropenias | ||||||
| Severe congenital neutropenia (SCN) | SCN1: ELANE (ELA2) deficiency | Autosomal‐dominant | Cyclic or chronic neutropenia | Early arrest of neutrophil maturation and/or increased apoptosis, possible impairment of migration | Increased susceptibility to bacterial and fungal infections, monocytosis, and possible other congenital defects | 43, 44, 45 |
| SCN2: GFI‐I deficiency | ||||||
| SCN3 (Kostmann disease): HAX1 deficiency | Autosomal‐recessive | Neutropenia | ||||
| SCN4: G6PC3 deficiency | Neutropenia and thrombocytopenia | |||||
| SCN5: VPS45 deficiency | Neutropenia | |||||
| Wiskott‐Aldrich syndrome | WAS deficiency | X‐linked | Neutropenia | Impaired maturation and increased apoptosis of myeloid cells | Increased susceptibility to bacterial and fungal infections, thrombocytopenia, eczema | 23, 43, 44 |
| G‐CSF receptor deficiency | CSF3R deficiency | Autosomal‐recessive | Neutropenia | Impaired emergency granulopoiesis | Increased susceptibility to bacterial and fungal infections, increased rate of malignancy | 45, 46 |
| Defects of chemotaxis and recruitment | ||||||
| Leukocyte adhesion deficiency (LAD) | LAD1: ITGB2 (CD18) deficiency | Autosomal‐recessive | Neutrophilia associated with poor extravasation | Impaired cell adhesion, migration, and effector function | Increased susceptibility to bacterial and fungal infections, neutrophilia | 23, 47 |
| LAD2: SLC35C1 (sialyl‐LewisX) deficiency | ||||||
| LAD3: FERMT3 (kindlin‐3) deficiency | ||||||
| WHIM syndrome | CXCR4 gain‐of‐function mutation | Autosomal‐dominant | Neutropenia | Impaired chemotaxis, impaired release to circulation | Warts, hypogammaglo‐bulinemia, bacterial and fungal infections, myelokathexis | 48 |
| CXCR2 deficiency | CXCR2 deficiency | Autosomal‐recessive | ||||
| Defects of respiratory burst | ||||||
| Chronic granulomatous disease (CGD) | CYBA deficiency | Autosomal‐recessive | Unchanged | Defective NADPH oxidase complex; cannot produce reactive oxygen species and execute phagocytosis | Increased susceptibility to bacterial and fungal infections | 2, 37, 49 |
| CYBC1 deficiency | ||||||
| NCF1 deficiency | ||||||
| NCF2 deficiency | ||||||
| NCF4 deficiency | ||||||
| CYBB deficiency | X‐linked | |||||
| G6PD deficiency | G6PD deficiency | X‐linked | Possible neutropenia | Impaired production of reactive oxygen species | Increased susceptibility to bacterial and fungal infections | 45 |