Severe combined immunodeficiency due to complete RAG1/2 deficiency

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Name:
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Description:
Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.
ORPHAcode:
331206
Synonyms:
SCID due to complete RAG1/2 deficiency
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14