Additional Disease Briefs

combined immunodeficiency due to DOCK8 deficiency

Also known as: AR hyperimmunoglobulin E syndrome, AR-HIES, Cid due to DOCK8 deficiency, DOCK8 deficiency, DOCK8 immunodeficiency syndrome, HIES autosomal recessive, HIES, autosomal recessive, autosomal recessive hyper IgE syndrome, combined immunodeficiency due to DOCK8 deficiency, combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency, dedicator of cytokinesis 8 deficiency, hyper Ig E syndrome, autosomal recessive, hyper-IgE recurrent infection syndrome, autosomal recessive, hyper-IgE syndrome, autosomal recessive, hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive

combined immunodeficiency due to GINS1 deficiency

Also known as: CID due to GINS1 deficiency, IMD55, combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia, combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia, immunodeficiency 55

combined immunodeficiency due to LRBA deficiency

Also known as: CID due to LRBA deficiency, CVID8, combined immunodeficiency due to LRBA deficiency, immunodeficiency, common variable, 8, with autoimmunity

combined immunodeficiency due to MALT1 deficiency

Also known as: IMD12, combined immunodeficiency due to MALT1 deficiency, immunodeficiency 12, immunodeficiency type 12

combined immunodeficiency due to moesin deficiency

Also known as: CID due to Moesin deficiency, IMD50, MSN-related combined immunodeficiency, X-linked Moesin-associated immunodeficiency, immunodeficiency 50, immunodeficiency 50, X-linked recessive, immunodeficiency type 50

combined immunodeficiency due to ORAI1 deficiency

Also known as: CID due to ORAI1 deficiency, IMD9, immune dysfunction with T-cell inactivation due to calcium entry defect 1, immunodeficiency 9, immunodeficiency type 9

combined immunodeficiency due to OX40 deficiency

Also known as: IMD16, OX40 deficiency, combined immunodeficiency with childhood-onset Kaposi sarcoma, combined immunodeficiency with impaired immunity to HHV-8, combined immunodeficiency with impaired immunity to human herpes virus 8, immunodeficiency 16, immunodeficiency type 16

combined immunodeficiency due to partial RAG1 deficiency

Also known as: CID due to partial RAG1 deficiency, CID with expansion of gamma delta T cells, alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity, combined immunodeficiency with expansion of gamma delta T cells

combined immunodeficiency due to POLE2 deficiency

combined immunodeficiency due to RELA haploinsufficiency

Also known as: CID due to RELA haploinsufficiency