Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

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.

Also known as: SCID due to complete RAG1/2 deficiency, severe combined immunodeficiency, B cell-negative, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, SCID, AR, T-cell negative, B-cell negative, NK cell-positive, SCID, T cell-negative, B cell-negative, NK cell-positive, severe combined immunodeficiency due to complete RAG1/2 deficiency, severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive

4 clinical trials for this condition and its sub-types.