Brahim Belaid Lydia Lamara Mahammed Aida Mohand Oussaid Melanie Migaud Yasmine Khadri Jean Laurent Casanova Anne Puel Nafissa Ben Halla Reda Djidjik
10.3389/fimmu.2021.696350
Front Immunol
2021 Jun 24;12:696350.
interleukin-2 receptor gamma combined immunodeficiency hyper-ige hypomorphic mutations inborn error of immunity
CC BY
https://pubmed.ncbi.nlm.nih.gov/34248995/
Interleukin Receptor Common gamma Subunit / genetics Job Syndrome / genetics Mutation, Missense X-Linked Combined Immunodeficiency Diseases / genetics
Interleukin Receptor Common gamma Subunit / genetics Job Syndrome / genetics Mutation, Missense X-Linked Combined Immunodeficiency Diseases / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Cell Proliferation Child Genetic Predisposition to Disease Humans Interleukin Receptor Common gamma Subunit / metabolism Job Syndrome / diagnosis Job Syndrome / immunology Lymphocyte Activation Male Phenotype T-Lymphocyte Subsets / immunology T-Lymphocyte Subsets / metabolism X-Linked Combined Immunodeficiency Diseases / diagnosis X-Linked Combined Immunodeficiency Diseases / immunology IL2RG protein, human Interleukin Receptor Common gamma Subunit
PMC8264782
34248995
Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome
2021