Table 1. Genetic neutrophil defects.
Here we summarize the genetic defects that affect neutrophil availability and functions and their effect on neutrophil/other cell functions.
| Disease | Gene | OMIM | Affected Cell/Function |
|---|---|---|---|
| Congenital Neutropenia | |||
| Elastase Deficiency | ELANE | 600871 | Neutrophil/Development |
| GFI 1 deficiency | GFII | 600871 | Neutrophil/Development |
| HAX1 deficiency (Kostman) | HAX1 | 605998 | Neutrophil/Development |
| G6PC3 deficiency | G6PC3 | 611045 | Neutrophil Development, chemotaxis, O2 production |
| VPS45 deficiency | VPS45 | 610035 | Neutrophil differentiation, migration |
| Glycogen storage disease type 1b | G6PT1 | 602671 | Myeloid differentiation, chemotaxis, O2− production |
| X-linked neutropenia/myelodysplasia | WAS (gof) | 300299 | Differentiation, mitosis. |
| P14/LAMTOR2 deficiency | LAMTOR2 | 610389 | Endosomal biogenesis |
| Barth Syndrome | TAZ | 300394 | Mitochondrial function |
| Cohen syndrome | VPS13B | 607817 | Neutrophil/Development |
| Clericuzio syndrome | USB1 | 613276 | Neutrophil/Development |
| JAGN1 deficiency | JAGN1 | 616012 | Neutrophil/Development |
| 3-Methylglutaconic aciduria | CLPB | 616254 | Mitochondrial protein |
| G-CSF receptor deficiency | CSF3R | 138971 | Stress granulopoiesis disturbed |
| Shwachman-Diamond Syndrome | SBDS | 607444 | Neutrophil maturation, chemotaxis, ribosomal biogenesis |
| DNAJC21 | |||
| EFL1 | |||
| HYOU1 deficiency | HYOU1 | 601746 | Unfolded protein response |
| SRP54 deficiency | SRP54 | 604857 | Protein translocation to ER, |
| Defects of motility | |||
| Leukocyte adhesion deficiency type 1 (LAD1) | ITGB2 | 600065 | Neutrophil transmigration into tissues |
| Leukocyte adhesion deficiency type 2 (LAD2) | SLC35C1 | 605881 | Rolling, chemotaxis |
| Leukocyte adhesion deficiency type 3 (LAD3) | FERMT | 607901 | Adherence, chemotaxis |
| Rac2 deficiency | RAC2 | 608203 | Adherence, chemotaxis O2− production |
| β actin deficiency | ACTB | 102630 | Motility |
| Localized juvenile periodontitis | FPR1 | 136537 | Formylpeptide induced chemotaxis |
| WDR1 deficiency | WDR1 | 604734 | Spreading, survival, chemotaxis |
| Cystic fibrosis | CFTR | 602421 | Chemotaxis |
| Neutropenia with combined immune deficiency due to MKL1 deficiency | MKL1 | 606078 | Impaired expression of cytoskeletal genes |
| Defects of respiratory burst | |||
| X-linked chronic granulomatous disease (CGD), gp91phox | CYBB | 306400 | Killing (faulty O2− production) |
| Autosomal recessive CGD | CYBA | 608508 | |
| CYBC1 | 618334 | ||
| NCF1 | 608512 | ||
| NCF2 | 608515 | ||
| NCF4 | 613960 | ||
| G6PD deficiency class I | G6PD | 305900 | Reduced O2− production |
| Defects of neutrophil proteases | |||
| Papillon-Lefèvre syndrome | CTSC | 602365 | Cathepsin C deficiency |
| Secondary granule assembly | |||
| neutrophil protease packaging |