Table 2 Genes and MIM numbers of disease... | American Society of Hematology

Table 2

Genes and MIM numbers of disease entities caused by multiple different genes

Disorder*	Involved genes†	MIM#
CVID	TACI, BAFF-R, CD19, CD20, CD21, CD81, ICOS, LRBA, TWEAK	604907, 606269, 107265, 112210, 614699, 186845, 604558, 606453, 602695
ALPS	TNFRSF6 (CD95/Fas; germline or somatic), TNFSF6 (CD95L/FasL), CASP10, CASP8, FADD, CARD11, PRKCD, K/NRAS	601859, 134638, 603909, 607271, 613759, 606445, 615559, 614470
CID	RAG1/2, ARTEMIS, ADA, PNP, CD40L, CD40, ZAP70, SH2D1A, RMRP, STK4, TCRA, LCK, PI3KD, ORAI1, STIM1, TPP2	601457, 602450, 102700, 164050, 300386, 109535, 269840, 308240, 250250, 614868, 615387, 153390, 602839, 610277, 605921, 190470
IPEX, IPEX-like	FOXP3, CD25, STAT5b, STAT1	304790, 606367, 245590, 600555
XLP	SH2D1A, XIAP/BIRC4	308240, 300635
FHL with or without hypopigmentation (including CHS, HPS, GS2)	PRF1, UNC13D, STX11, STXBP2, LYST, AP3B4, RAB27A	603553, 608898, 603552, 613101, 214500, 608233, 607624
DKC	DKC1, NHP2, NOP10, RTEL1, TERC, TERT, TINF2	305000, 613987, 224230, 608833, 127550, 614742, 613990

Disorder*	Involved genes†	MIM#
CVID	TACI, BAFF-R, CD19, CD20, CD21, CD81, ICOS, LRBA, TWEAK	604907, 606269, 107265, 112210, 614699, 186845, 604558, 606453, 602695
ALPS	TNFRSF6 (CD95/Fas; germline or somatic), TNFSF6 (CD95L/FasL), CASP10, CASP8, FADD, CARD11, PRKCD, K/NRAS	601859, 134638, 603909, 607271, 613759, 606445, 615559, 614470
CID	RAG1/2, ARTEMIS, ADA, PNP, CD40L, CD40, ZAP70, SH2D1A, RMRP, STK4, TCRA, LCK, PI3KD, ORAI1, STIM1, TPP2	601457, 602450, 102700, 164050, 300386, 109535, 269840, 308240, 250250, 614868, 615387, 153390, 602839, 610277, 605921, 190470
IPEX, IPEX-like	FOXP3, CD25, STAT5b, STAT1	304790, 606367, 245590, 600555
XLP	SH2D1A, XIAP/BIRC4	308240, 300635
FHL with or without hypopigmentation (including CHS, HPS, GS2)	PRF1, UNC13D, STX11, STXBP2, LYST, AP3B4, RAB27A	603553, 608898, 603552, 613101, 214500, 608233, 607624
DKC	DKC1, NHP2, NOP10, RTEL1, TERC, TERT, TINF2	305000, 613987, 224230, 608833, 127550, 614742, 613990

See Al-Herz et al ³ for more detailed PID disease classification.

In the same order of appearance as in Table 1.

Listed unless gene name is identical with disease name and thus is mentioned in Table 1 (see also Al-Herz et al³).