Immunodeficiency 19 D81.0

IMD19 is an autosomal recessive inherited form of severe combined immunodeficiency (SCID) characterized by the onset of recurrent bacterial, viral, and fungal infections in early childhood.

Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic examination reveals a T-cell-negative, B-cell-positive, and NK-cell-positive phenotype. The disease is fatal in early childhood without bone marrow transplantation (Yu et al., 2011).

Yu et al. (2011) retrospectively studied a brother and sister with T-, B+, NK+ SCID who were homozygous for a "truncating" mutation in the CD3D gene (R68X; 186790.0001). The patients had typical clinical features, including failure to thrive, diarrhea, and recurrent and/or opportunistic infections, including fungal and CMV infections. Both had lymphopenia and absence of circulating CD3+ T cells and decreased T-cell proliferation response in vitro. Both underwent bone marrow transplantation; one sibling died shortly thereafter, while the other was healthy.

1. Yu GP et al (2011) Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. Pediat. Transplant. 15: 733-741.