Combined immunodeficiency disease

Disease Term Disease ID Gene Symbol Classification References Source
COMBINED IMMUNODEFICIENCY
MONDO:0015131
ICOSLG Causal
12833154 30498080 33033255 34694545
ClinGen GWAS catalog
CRACR2A Unknown
27016526 29987160 34908525
ClinGen GWAS catalog
IRF4 Unknown
23926303 29408330 29537367 33859042 36662884 36917008 8999800
ClinGen GWAS catalog
SLC19A1 Unknown
32276275
GWAS catalog
COMBINED IMMUNODEFICIENCY DISEASE
C2711630
ARPC1B Unknown — Disgenet
BCL11B Unknown — Disgenet
CARMIL2 Unknown — Disgenet
CD27 Unknown — Disgenet
CD40LG Unknown — Disgenet
CRACR2A Unknown — Disgenet
ICOSLG Unknown — Disgenet
IL2RG Unknown — Disgenet
IRF4 Unknown — Disgenet
POLD1 Unknown — Disgenet
TFRC Unknown — Disgenet
ZAP70 Unknown — Disgenet
COMBINED IMMUNODEFICIENCY DUE TO C-REL DEFICIENCY
697394
REL Unknown
31103457
Orphanet
COMBINED IMMUNODEFICIENCY DUE TO CARD11 DEFICIENCY
357237
CARD11 Unknown
23374270 23561803
Orphanet
COMBINED IMMUNODEFICIENCY DUE TO CARMIL2 DEFICIENCY
C5568557
CARMIL2 Unknown — Disgenet
COMBINED IMMUNODEFICIENCY DUE TO CD27 DEFICIENCY
238505
CD27 Unknown
22197273
Orphanet
COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY
169082MONDO:0014276C4510864
CD3G Causal
1635567 17277165 18482219 19801521 23590417 24910257 29653965 31921117
ClinGen ClinVar GWAS catalog Orphanet
COMBINED IMMUNODEFICIENCY DUE TO CD70 DEFICIENCY
C5568559
CD70 Unknown — Disgenet
COMBINED IMMUNODEFICIENCY DUE TO CTPS1 DEFICIENCY
MONDO:0014391
CTPS1 Causal
24870241 27638562 32161190 35983265 37348953 38438357
GWAS catalog
COMBINED IMMUNODEFICIENCY DUE TO DEDICATOR OF CYTOKINESIS 2 PROTEIN DEFICIENCY
C5925035
DOCK2 Unknown — Disgenet
COMBINED IMMUNODEFICIENCY DUE TO DIMERIZATION DEFECTIVE IKAROS MUTATION
695172
IKZF1 Unknown
32845957
Orphanet
COMBINED IMMUNODEFICIENCY DUE TO DOCK2 DEFICIENCY
447737
DOCK2 Unknown
26083206
Orphanet
COMBINED IMMUNODEFICIENCY DUE TO DOCK8 DEFICIENCY
217390C5679816MONDO:0009478
DOCK8 Causal
19776401 19898472 20004785 20622910 22006977 25422492 27554822 31021819 33020661 33290277
ClinGen ClinVar Disgenet GWAS catalog Orphanet
COMBINED IMMUNODEFICIENCY DUE TO FCHO1 DEFICIENCY
647804C5816748
FCHO1 Unknown
32098969
Disgenet Orphanet
COMBINED IMMUNODEFICIENCY DUE TO FOXN1 HAPLOINSUFFICIENCY
676039C5925099
FOXN1 Unknown
31447097
Disgenet Orphanet
COMBINED IMMUNODEFICIENCY DUE TO GINS COMPLEX SUBUNIT 1 DEFICIENCY
C5568132
GINS1 Unknown — Disgenet
COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY
505227MONDO:0044725
GINS1 Causal
28414293 31630891
ClinVar GWAS catalog Orphanet
COMBINED IMMUNODEFICIENCY DUE TO HELIOS DEFICIENCY
697389
IKZF2 Unknown
34826260
Orphanet
COMBINED IMMUNODEFICIENCY DUE TO IKBKB DEFICIENCY
397787
IKBKB Unknown
24369075
Orphanet
COMBINED IMMUNODEFICIENCY DUE TO IL21R DEFICIENCY
357329
IL21R Unknown
23440042
Orphanet
COMBINED IMMUNODEFICIENCY DUE TO INTERLEUKIN 21 RECEPTOR DEFICIENCY
C5191307
IL21R Unknown — Disgenet
COMBINED IMMUNODEFICIENCY DUE TO ITK DEFICIENCY
538963
ITK Unknown
19425169
Orphanet
COMBINED IMMUNODEFICIENCY DUE TO LCK DEFICIENCY
280142
LCK Unknown — Orphanet
COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY
MONDO:0013863
LRBA Causal
22608502 22721650 22981790 25468195 26206937 28652580 32154999
ClinGen ClinVar GWAS catalog
COMBINED IMMUNODEFICIENCY DUE TO MALT1 DEFICIENCY
397964C4750906MONDO:0014197
MALT1 Causal
14576442 23727036 24332264 25627829 25762782 26405015 27253662 30692685 31037583 32858082
ClinGen ClinVar Disgenet Orphanet
COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY
504530MONDO:0010514C5568123
MSN Causal
10444190 22875842 27405666 28378256 28978692 29556235 32506361 34093558 34453634 34645488 34798556 35754805 36119109
ClinGen ClinVar GWAS catalog Orphanet
COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY
317428MONDO:0013007
ORAI1 Causal
16582901 18187424 20004786 20956344 22641696 26070885
CTD ClinVar Orphanet
COMBINED IMMUNODEFICIENCY DUE TO OX40 DEFICIENCY
431149MONDO:0014268C4707864
TNFRSF4 Unknown
23897980
ClinGen ClinVar GenCC Orphanet
COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY
231154MONDO:0012359
RAG1 Causal — ClinVar GenCC Orphanet
COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RECOMBINATION-ACTIVATING GENE 1 DEFICIENCY
C4510944
RAG1 Unknown — Disgenet
COMBINED IMMUNODEFICIENCY DUE TO RELA HAPLOINSUFFICIENCY
596759C5680288MONDO:0035694
RELA Unknown
12881425 28600438 29305315 32969189 35412596
ClinGen Disgenet Orphanet
COMBINED IMMUNODEFICIENCY DUE TO RELB DEFICIENCY
688594
RELB Unknown
39231201
Orphanet
COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY
317430MONDO:0013008
STIM1 Causal
19420366 20876309 33733462 37898571 38578569
ClinGen ClinVar GWAS catalog Orphanet