severe combined immunodeficiency disease, autosomal recessive, T-negative/B-positive type

Pathology

• absence of circulating mature T-lymphocytes & NK cells
• normal to elevated numbers of nonfunctional B-lymphocytes
• marked hypoplasia of lymphoid tissues

Genetics

• associated with defects in JAK3

More general terms

• combined immune deficiency

Database

• OMIM: https://mirror.omim.org/entry/600802