The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory

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.