Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency.
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recombinase activating gene 1 deficiency
MONDO:0000572
recombinase activating gene 2 deficiency
MONDO:0000573
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
MONDO:0011132
T-B- severe combined immunodeficiency
MONDO:0017855
severe combined immunodeficiency due to CARMIL2 deficiency
MONDO:0029134
immunodeficiency 79
MONDO:0030981