Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
interleukin-7 receptor alpha deficiency
janus kinase-3 deficiency
MHC class I deficiency
MHC class II deficiency
Omenn syndrome
recombinase activating gene 1 deficiency
recombinase activating gene 2 deficiency
A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. (DO)
reticular dysgenesis
Reticuloendotheliosis, X-Linked
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
severe combined immunodeficiency with sensitivity to ionizing radiation
Severe Combined Immunodeficiency, Atypical
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive +
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations