Rare Disease Library

Combined immunodeficiency with granulomatosis

CID due to RAG 1/2 deficiency · Combined immunodeficiency due to RAG 1/2 deficiency

Acquired immunodeficiency

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

Autosomal dominant combined immunodeficiency due to ERBIN deficiency

AD-CID due to ERBIN deficiency · Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency

Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency

Autosomal dominant combined immunodeficiency due to partial glycoprotein 130 deficiency · Autosomal dominant combined immunodeficiency due to partial interleukin 6 signal transducer protein deficiency

Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency

Stüve-Wiedemann syndrome type 2 · AR CID due to complete GP130 deficiency

Autosomal recessive combined immunodeficiency due to IL6R deficiency

AR CID due to IL6R deficiency · Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency

Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency

Autosomal recessive combined immunodeficiency due to partial IL6 signal transducer protein deficiency · AR CID due to partial IL6ST 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 deficiency of factor V and factor VIII

F5F8D · FV and FVIII combined deficiency

Combined immunodeficiency due to c-REL deficiency

CID due to c-REL deficiency · Combined immunodeficiency due to cellular homolog of v-Rel deficiency

Combined immunodeficiency due to CARD11 deficiency

CID due to CARD11 deficiency · Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency

Combined immunodeficiency due to CD27 deficiency

CD27 deficiency · Autosomal recessive lymphoproliferative disease due to CD27 deficiency

Combined immunodeficiency due to CD3gamma deficiency

Combined immunodeficiency due to CRAC channel dysfunction

Immune dysfunction due to T-cell inactivation due to calcium entry defect

Combined immunodeficiency due to dimerization defective IKAROS mutation

Combined immunodeficiency due to dimerization defective IKZF1 mutation · CID due to IKAROS dimerization defective mutation

Combined immunodeficiency due to DOCK2 deficiency

Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency · CID due to DOCK2 deficiency

Combined immunodeficiency due to DOCK8 deficiency

CID due to DOCK8 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency

Combined immunodeficiency due to FCHO1 deficiency

Combined immunodeficiency due to FOXN1 haploinsufficiency

Combined immunodeficiency due to GINS1 deficiency

Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia · CID due to GINS1 deficiency

Combined immunodeficiency due to HELIOS deficiency

CID due to HELIOS deficiency · Combined immunodeficiency due to IKZF2 deficiency

Combined immunodeficiency due to IKBKB deficiency

CID due to IKBKB deficiency · Combined immunodeficiency due to inhibitor of nuclear factor kappa B subunit beta deficiency

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 IL21R deficiency

CID due to IL21R deficiency · Combined immunodeficiency due to interleukin 21 receptor deficiency

Combined immunodeficiency due to ITK deficiency

ITK deficiency · Autosomal recessive lymphoproliferative disease due to ITK 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 MALT1 deficiency

Combined immunodeficiency due to Moesin deficiency

MSN-related combined immunodeficiency · CID due to Moesin deficiency

Combined immunodeficiency due to ORAI1 deficiency

CID due to ORAI1 deficiency

Combined immunodeficiency due to OX40 deficiency

Combined immunodeficiency with childhood-onset Kaposi sarcoma · Combined immunodeficiency with impaired immunity to HHV-8

Combined immunodeficiency due to partial RAG1 deficiency

CID due to partial RAG1 deficiency · CID with expansion of gamma delta T cells

Combined immunodeficiency due to RELA haploinsufficiency

RELA-associated inflammatory disease · CID due to RELA haploinsufficiency

Combined immunodeficiency due to RELB deficiency

CID due to RELB deficiency · Combined immunodeficiency due to RELB proto-oncogene NF-kB subunit deficiency

Combined immunodeficiency due to STIM1 deficiency

CID due to STIM1 deficiency

Combined immunodeficiency due to STK4 deficiency

CID due to STK4 deficiency

Combined immunodeficiency due to TBX1 deficiency

Combined immunodeficiency due to TFRC deficiency

CID due to TFRC deficiency · TFRC-related combined immunodeficiency

Combined immunodeficiency due to ZAP70 deficiency

Zeta-associated-protein 70 deficiency

Combined immunodeficiency with low Ig due to BCL10 deficiency

Combined immunodeficiency with low Ig due to B-cell lymphoma 10 immune signaling adaptor deficiency · CID with low Ig due to BCL10 deficiency

Combined immunodeficiency with low immunoglobulins and normal B cells

CID with low Ig and normal B cells · Combined immunodeficiency low Ig and normal B cells

Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency

Combined immunodeficiency-cancer predisposing syndrome due to IKZF3 deficiency · CID-cancer predisposing syndrome due to AIOLOS deficiency

Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency

Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to IKZF3 deficiency · CID-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency

Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency

CID-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency · Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IkappaB kinase alpha deficiency

Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency

Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to IKZF3 deficiency · CID-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency

Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency

CIMAH · Methylenetetrahydrofolate dehydrogenase 1 deficiency

Combined immunodeficiency-multiple intestinal atresia

CID-MIA/early-onset IBD

Combined T and B cell immunodeficiency