Severe combined immunodeficiency due to complete RAG1/2 deficiency

Other Names: SCID, AR, T-cell negative, B-cell negative, NK cell-positive; SCID due to complete RAG1/2 deficiency; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive

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.

NIH genetic and rare disease info

• NIH info on Severe combined immunodeficiency due to complete RAG1/2 deficiency

Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare disease.

Severe combined immunodeficiency due to complete RAG1/2 deficiency Resources
Need Help Finding a Doctor? Need help finding a doctor or specialist anywhere in the world? Explore our world directory. WikiMD's DocFinder can assist you in locating millions of physicians.	Medical Knowledge Access the latest research - Most recent articles Ongoing trials.

Translate to: East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski