Genetically characterized PID for which HCT is well established as treatment
| Disorder . | Gene(s) . |
|---|---|
| Cellular and humoral immunity | |
| SCID | Multiple (Table 3) |
| X-linked hyper-IgM syndrome | CD40LG |
| DOCK8 deficiency | DOCK8 |
| ZAP70 deficiency | ZAP70 |
| Combined immunodeficiency with associated or syndromic features | |
| Wiskott–Aldrich syndrome | WAS |
| Dyskeratosis congenita | DKC1, NHP2, NOP10, RTEL1, TERC, TERT, TINF2, ACD, PARN, WRAP53, STN1, CTC1, NAF1 |
| NEMO deficiency | IKBKG |
| Diseases of immune dysregulation | |
| Hemophagocytic lymphohistiocytosis | PRF1, UNC13D, STX11, STXBP2 |
| Other syndromes at risk for hemophagocytic lymphohistiocytosis (Chediak–Higashi syndrome, Griscelli syndrome type 2) | LYST, RAB27A |
| Immune dysregulation, polyendocrinopathy, enteropathy, X-linked | FOXP3 |
| X-linked lymphoproliferative disease | SH2D1A, XIAP |
| Defects of phagocytes | |
| Chronic granulomatous disease | CYBB, CYBA, NCF1, NCF2 |
| Severe congenital neutropenia | ELANE, GFI1, HAX1 |
| Leukocyte adhesion deficiency type 1 | ITGB2 |
| Defects of IL-10 pathway | IL10RA, IL10RB |
| MonoMac syndrome | GATA2 |
| Defects in intrinsic and innate immunity | |
| Mendelian susceptibility to mycobacterial disease | IFNGR1, IFNGR2 |
| Osteopetrosis | TCIRG1, TNFRSF11A (RANK) |
| Disorder . | Gene(s) . |
|---|---|
| Cellular and humoral immunity | |
| SCID | Multiple (Table 3) |
| X-linked hyper-IgM syndrome | CD40LG |
| DOCK8 deficiency | DOCK8 |
| ZAP70 deficiency | ZAP70 |
| Combined immunodeficiency with associated or syndromic features | |
| Wiskott–Aldrich syndrome | WAS |
| Dyskeratosis congenita | DKC1, NHP2, NOP10, RTEL1, TERC, TERT, TINF2, ACD, PARN, WRAP53, STN1, CTC1, NAF1 |
| NEMO deficiency | IKBKG |
| Diseases of immune dysregulation | |
| Hemophagocytic lymphohistiocytosis | PRF1, UNC13D, STX11, STXBP2 |
| Other syndromes at risk for hemophagocytic lymphohistiocytosis (Chediak–Higashi syndrome, Griscelli syndrome type 2) | LYST, RAB27A |
| Immune dysregulation, polyendocrinopathy, enteropathy, X-linked | FOXP3 |
| X-linked lymphoproliferative disease | SH2D1A, XIAP |
| Defects of phagocytes | |
| Chronic granulomatous disease | CYBB, CYBA, NCF1, NCF2 |
| Severe congenital neutropenia | ELANE, GFI1, HAX1 |
| Leukocyte adhesion deficiency type 1 | ITGB2 |
| Defects of IL-10 pathway | IL10RA, IL10RB |
| MonoMac syndrome | GATA2 |
| Defects in intrinsic and innate immunity | |
| Mendelian susceptibility to mycobacterial disease | IFNGR1, IFNGR2 |
| Osteopetrosis | TCIRG1, TNFRSF11A (RANK) |
IgM, immunoglobulin M; IL-10, interleukin-10; NEMO, NF-κB essential modulator.