Primary immunodeficiency



ADA - from Human

Gene Symbol ADA
Entrez Gene 100
Alt Symbol -
Gene Type protein-coding
Description adenosine deaminase

AIRE - from Human

Gene Symbol AIRE
Entrez Gene 326
Alt Symbol AIRE1, APECED, APS1, APSI, PGA1
Gene Type protein-coding
Description autoimmune regulator

BTK - from Human

Gene Symbol BTK
Entrez Gene 695
Alt Symbol AGMX1, AT, ATK, BPK, IMD1, PSCTK1, XLA
Gene Type protein-coding
Description Bruton agammaglobulinemia tyrosine kinase

CD3D - from Human

Gene Symbol CD3D
Entrez Gene 915
Alt Symbol CD3-DELTA, IMD19, T3D
Gene Type protein-coding
Description CD3d molecule, delta (CD3-TCR complex)

CD3E - from Human

Gene Symbol CD3E
Entrez Gene 916
Alt Symbol IMD18, T3E, TCRE
Gene Type protein-coding
Description CD3e molecule, epsilon (CD3-TCR complex)

CD4 - from Human

Gene Symbol CD4
Entrez Gene 920
Alt Symbol CD4mut
Gene Type protein-coding
Description CD4 molecule

CD8A - from Human

Gene Symbol CD8A
Entrez Gene 925
Alt Symbol CD8, Leu2, MAL, p32
Gene Type protein-coding
Description CD8a molecule

CD8B - from Human

Gene Symbol CD8B
Entrez Gene 926
Alt Symbol CD8B1, LEU2, LY3, LYT3, P37
Gene Type protein-coding
Description CD8b molecule

CD19 - from Human

Gene Symbol CD19
Entrez Gene 930
Alt Symbol B4, CVID3
Gene Type protein-coding
Description CD19 molecule

CD40 - from Human

Gene Symbol CD40
Entrez Gene 958
Alt Symbol Bp50, CDW40, TNFRSF5, p50
Gene Type protein-coding
Description CD40 molecule, TNF receptor superfamily member 5

CD40LG - from Human

Gene Symbol CD40LG
Entrez Gene 959
Alt Symbol CD154, CD40L, HIGM1, IGM, IMD3, T-BAM, TNFSF5, TRAP, gp39, hCD40L
Gene Type protein-coding
Description CD40 ligand

CD79A - from Human

Gene Symbol CD79A
Entrez Gene 973
Alt Symbol IGA, MB-1
Gene Type protein-coding
Description CD79a molecule, immunoglobulin-associated alpha

IGLL1 - from Human

Gene Symbol IGLL1
Entrez Gene 3543
Alt Symbol 14.1, AGM2, CD179b, IGL1, IGL5, IGLJ14.1, IGLL, IGO, IGVPB, VPREB2
Gene Type protein-coding
Description immunoglobulin lambda-like polypeptide 1

IL2RG - from Human

Gene Symbol IL2RG
Entrez Gene 3561
Alt Symbol CD132, CIDX, IL-2RG, IMD4, P64, SCIDX, SCIDX1
Gene Type protein-coding
Description interleukin 2 receptor, gamma

IL7R - from Human

Gene Symbol IL7R
Entrez Gene 3575
Alt Symbol CD127, CDW127, IL-7R-alpha, IL7RA, ILRA
Gene Type protein-coding
Description interleukin 7 receptor

JAK3 - from Human

Gene Symbol JAK3
Entrez Gene 3718
Alt Symbol JAK-3, JAK3_HUMAN, JAKL, L-JAK, LJAK
Gene Type protein-coding
Description Janus kinase 3

LCK - from Human

Gene Symbol LCK
Entrez Gene 3932
Alt Symbol IMD22, LSK, YT16, p56lck, pp58lck
Gene Type protein-coding
Description LCK proto-oncogene, Src family tyrosine kinase

CIITA - from Human

Gene Symbol CIITA
Entrez Gene 4261
Alt Symbol C2TA, CIITAIV, MHC2TA, NLRA
Gene Type protein-coding
Description class II, major histocompatibility complex, transactivator

PTPRC - from Human

Gene Symbol PTPRC
Entrez Gene 5788
Alt Symbol B220, CD45, CD45R, GP180, L-CA, LCA, LY5, T200
Gene Type protein-coding
Description protein tyrosine phosphatase, receptor type, C

RAG1 - from Human

Gene Symbol RAG1
Entrez Gene 5896
Alt Symbol RAG-1, RNF74
Gene Type protein-coding
Description recombination activating gene 1

RAG2 - from Human

Gene Symbol RAG2
Entrez Gene 5897
Alt Symbol RAG-2
Gene Type protein-coding
Description recombination activating gene 2

RFX5 - from Human

Gene Symbol RFX5
Entrez Gene 5993
Alt Symbol -
Gene Type protein-coding
Description regulatory factor X, 5 (influences HLA class II expression)

RFXAP - from Human

Gene Symbol RFXAP
Entrez Gene 5994
Alt Symbol -
Gene Type protein-coding
Description regulatory factor X-associated protein

TAP1 - from Human

Gene Symbol TAP1
Entrez Gene 6890
Alt Symbol ABC17, ABCB2, APT1, D6S114E, PSF-1, PSF1, RING4, TAP1*0102N, TAP1N
Gene Type protein-coding
Description transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)

TAP2 - from Human

Gene Symbol TAP2
Entrez Gene 6891
Alt Symbol ABC18, ABCB3, APT2, D6S217E, PSF-2, PSF2, RING11
Gene Type protein-coding
Description transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
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