Combined immunodeficiency

Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL DOMINANT COMBINED IMMUNODEFICIENCY DUE TO ERBIN DEFICIENCY
656912C5925110MONDO:0958120
ERBIN Unknown
28126831 39836844
ClinGen Disgenet GWAS catalog Orphanet
AUTOSOMAL DOMINANT COMBINED IMMUNODEFICIENCY DUE TO PARTIAL IL6ST DEFICIENCY
656313C5925105
IL6ST Unknown
35748970
Disgenet Orphanet
AUTOSOMAL RECESSIVE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE GLYCOPROTEIN 130 DEFICIENCY
C5925103
IL6ST Unknown — Disgenet
AUTOSOMAL RECESSIVE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE IL6ST DEFICIENCY
656283
IL6ST Unknown
35748970
Orphanet
AUTOSOMAL RECESSIVE COMBINED IMMUNODEFICIENCY DUE TO IL6R DEFICIENCY
656326C5925112
IL6R Unknown
31235509
Disgenet Orphanet
AUTOSOMAL RECESSIVE COMBINED IMMUNODEFICIENCY DUE TO PARTIAL GLYCOPROTEIN 130 DEFICIENCY
C5925106
IL6ST Unknown — Disgenet
AUTOSOMAL RECESSIVE COMBINED IMMUNODEFICIENCY DUE TO PARTIAL IL6ST DEFICIENCY
656300
IL6ST Unknown
34044328
Orphanet
CID DUE TO CARD11 DEFICIENCY
C5925010
CARD11 Unknown — Disgenet
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