Combined immunodeficiency due to partial RAG1 deficiency

Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0001744 Splenomegaly Very frequent (99-80%)
HP:0002721 Immunodeficiency Very frequent (99-80%)
HP:0004430 Severe combined immunodeficiency Very frequent (99-80%)
HP:0005403 Decrease in T cell count Very frequent (99-80%)
HP:0006515 Interstitial pneumonitis Very frequent (99-80%)
HP:0010976 B lymphocytopenia Very frequent (99-80%)
HP:0100806 Sepsis Very frequent (99-80%)
HP:0001890 Autoimmune hemolytic anemia Frequent (79-30%)
HP:0001904 Neutropenia in presence of anti-neutropil antibodies Frequent (79-30%)
HP:0002960 Autoimmunity Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
RAG1 recombination activating 1 5896