Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).Sanyal M, Morimoto M, Baradaran-Heravi A, Choi K, Kambham N, Jensen K, Dutt S, Dionis-Petersen KY, Liu LX, Felix K, Mayfield C, Dekel B, Bokenkamp A, Fryssira H, Guillen-Navarro E, Lama G, Brugnara M, Lücke T, Olney AH, Hunley TE, Polat AI, Yis U, Bogdanovic R, Mitrovic K, Berry S, Najera L, Najafian B, Gentile M, Nur Semerci C, Tsimaratos M, Lewis DB, Boerkoel CF
(2015)
Clin Immunol 161: 355-65
MeSH Terms: Adolescent, Adult, Arteriosclerosis, Cells, Cultured, Child, Child, Preschool, DNA Helicases, DNA Methylation, Flow Cytometry, Gene Expression, Humans, Immunohistochemistry, Immunologic Deficiency Syndromes, Interleukin-17, Leukocytes, Mononuclear, Mutation, Nephrotic Syndrome, Osteochondrodysplasias, Primary Immunodeficiency Diseases, Promoter Regions, Genetic, Pulmonary Embolism, Receptors, Interleukin-7, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, DNA, T-Lymphocytes, Young AdultAdded July 5, 2021