Rare Disease Library

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

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 FOXN1 haploinsufficiency

Combined immunodeficiency due to IKBKB gain-of-function mutation

CID due to IKBKB GOF mutation · Combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta gain-of-function mutation

Combined immunodeficiency due to RELA haploinsufficiency

RELA-associated inflammatory disease · CID due to RELA haploinsufficiency

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 germinal digenic/polygenic mutations

CVID phenotype due to germinal digenic/polygenic mutations

Common variable immunodeficiency phenotype due to germinal monogenic mutation

Monogenic CVID phenotype · Monogenic common variable immunodeficiency phenotype

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 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

Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency

OBSOLETE: Common variable immunodeficiency

OBSOLETE: CVID

OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect

OBSOLETE: CVID due to an intrinsic B cell defect

OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect

OBSOLETE: CVID due to an intrinsic T cell defect

OBSOLETE: Common variable immunodeficiency due to TNFR deficiency

OBSOLETE: CVID due to TNFR deficiency

OBSOLETE: Genetic common variable immunodeficiency phenotype and related disorders

OBSOLETE: Genetic CVID phenotype and related disorders

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