Table 1.
PID Immunophenotype and multigene panels used. Associated genes included in the multigene panels listed. Other well-known immune deficiencies such as ataxia telangiectasia, Nijmegen syndrome, Bloom syndrome, ICF syndrome, Wiskott-Aldrich syndrome, immunoosseous dysplasia, and Hoyeraal-Hreidarsson syndrome are not listed.
| PID phenotype | Associated genes and multigene panels |
|---|---|
| T−B+NK− SCID | IL2RG, JAK3 |
| T−B−NK+ SCID | RAG1, RAG2, DCLRE1C, PRKDC, LIG4, NHEJ1 |
| T−B+NK+ SCID | IL7R, CD3D, CD3E, CD247, PTPRC, CORO1A, FOXN1, PNP |
| T−B−NK− SCID | ADA, AK2 |
| Agammaglobulinemia | BTK, IGHM, IGLL1, CD79A, CD79B, BLNK |
| Hyper-IgM syndrome | CD40L, CD40, AICDA, UNG |
| Hyper-IgE syndrome | DOCK8, TYK2, STAT3 |
| CVID | TNFRSF13B (TACI), ICOS, TNFRSF13C (BAFF-R), CD40L, CD19, SH2D1A |
| HPVsIDs | TMC6, TMC8, RHOH, STK4 |
| MSMD | IL12B, IL12RB1, IFNGR1, IFNGR2, STAT1 |
| SCN | ELA2, HAX1, GFI1, MAPBP, WAS |
| CD4+ T cell deficiency | CIITA, RFX5, FRXAP, RFXANK, MAGT1, LCK, UNC119 |
| CD8+ T cell deficiency | TAP1, TAP2, TAPBP, ZAP70 |
SCID, severe combined immunodeficiency; CVID, common variable immunodeficiency; CGD, chronic granulomatous disease; HPVsIDs, human papilloma viruses susceptibility immune deficiencies; MSMD, Mendelian susceptibility to mycobacterial disease; SCN, severe congenital neutropenia.