Severe combined immunodeficiency disease (SCID) is a fatal, inherited disease of Arabian foals. Studies characterizing the immunophenotype of lymphoid cells and the defect in V(D)J recombination in SCID foals has improved our understanding of the disease. A definitive test that identifies SCID foals and carrier horses is now available. Author’s address: Dept. of Medical Sciences, University of ...

Nude severe combined immunodeficiency is a rare inherited disease caused by autosomal recessive loss-of-function mutations in FOXN1. This gene encodes a transcription factor essential for the development of the thymus, the primary lymphoid organ that supports T-cell development and selection. To date nine cases have been reported presenting with the clinical triad of absent thymus resulting in ...

BACKGROUND Recurrent sinopulmonary and cutaneous viral infections with elevated serum levels of IgE are features of some variants of combined immunodeficiency. The genetic causes of these variants are unknown. METHODS We collected longitudinal clinical data on 11 patients from eight families who had recurrent sinopulmonary and cutaneous viral infections. We performed comparative genomic hybri...