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
Clin Immunol. 2015 161 (2): 355-65

PMID: 26499378 · DOI:10.1016/j.clim.2015.10.005

MeSH Terms (26)

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 Adult

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