interleukin 2 receptor subunit alpha
OMIM: 147730
PanelMode of inheritanceDetails
2 panels
R-numbers: R143
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
neonatal diabetes mellitus, MONDO:0016391, insulin-dependent diabetes mellitus at 8-weeks, IPEX-like syndrome, {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, OMIM:601942, neonatal diabetes mellitus with congenital hypothyroidism, MONDO:0012436
R-numbers: R15
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Interleukin-2 receptor, alpha chain, deficiency of, Combined immunodeficiency, Omenn syndrome, Interleukin 2 receptor alpha deficiency (CD25) (IPEX phenotype), Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367, Lymphoproliferation, autoimmunity, impaired T cell proliferation, Diseases of Immune Dysregulation