Rare Disease Library

X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency

X-linked CVID phenotype due to SH3KBP1 deficiency · X-linked common variable immunodeficiency phenotype due to SH3-domain kinase-binding protein 1 deficiency

Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency

Adult-onset common variable immunodeficiency phenotype due to B-cell activating factor receptor deficiency · Adult-onset CVID phenotype due to BAFF-receptor deficiency

Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency

Childhood-onset CVID phenotype due to ARHGEF1 deficiency · Childhood-onset common variable immunodeficiency phenotype due to Rho guanine nucleotide exchange factor 1 deficiency

Combined immunodeficiency due to LCK deficiency

CID due to LCK deficiency · CID due to lymphocyte-specific protein tyrosine kinase deficiency

Combined immunodeficiency due to STIM1 deficiency

CID due to STIM1 deficiency

Combined immunodeficiency due to STK4 deficiency

CID due to STK4 deficiency

Common variable immunodeficiency phenotype due to CD19/CD81 deficiency

CVID phenotype due to CD19/CD81 deficiency · CD19 deficiency

Common variable immunodeficiency phenotype due to CD21 deficiency

Common variable immunodeficiency phenotype due to cluster of differentiation 21 deficiency · CVID phenotype due to CD21 deficiency

Common variable immunodeficiency phenotype due to homozygous TACI deficiency

CVID phenotype due to homozygous TACI deficiency · Common variable immunodeficiency phenotype due to homozygous TNFRSF13B deficiency

Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency

CVID phenotype due to IKAROS functional haploinsufficiency · Common variable immunodeficiency phenotype due to IKZF1 functional haploinsufficiency

Common variable immunodeficiency phenotype due to IRF2BP2 deficiency

CVID phenotype due to IRF2BP2 deficiency · Common variable immunodeficiency phenotype due to IFN regulatory factor-2 binding protein 2 deficiency

Common variable immunodeficiency phenotype due to SEC61A1 deficiency

CVID due to SEC61A1 deficiency · Common variable immunodeficiency phenotype due to SEC61 complex, alpha-1 subuntit deficiency

Common variable immunodeficiency phenotype due to somatic mutations

CVID phenotype due to somatic mutations

Common variable immunodeficiency phenotype due to TWEAK deficiency

CVID phenotype due to TWEAK deficiency · Common variable immunodeficiency phenotype due to TNF-related weak inducer of apoptosis

OBSOLETE: Common variable immunodeficiency due to TNFR deficiency

OBSOLETE: CVID due to TNFR deficiency

OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency

OBSOLETE: X-linked MSMD due to CYBB deficiency

OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

OBSOLETE: X-linked MSMD due to NEMO deficiency · OBSOLETE: X-linked MSMD due to IKBKG deficiency

PGM3-CDG

CID due to PGM3 deficiency · Combined immunodeficiency due to PGM3 deficiency

Severe combined immunodeficiency due to CTPS1 deficiency

SCID due to CTPS1 deficiency

Severe combined immunodeficiency due to LAT deficiency

SCID due to LAT deficiency

X-linked combined immunodeficiency due to SASH3 deficiency

X-linked CID due to SASH3 deficiency

X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency

DEX · X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency

X-linked lymphoproliferative disease due to SAP deficiency

X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency · X-linked lymphoproliferative disease due to SH2D1A deficiency