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immunodeficiency 19
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene.
Uniprot Description An autosomal recessive form of severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T-cell negative, B-cell positive, NK-cell positive phenotype.