Article
Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.
Journal of clinical immunology - 1 Apr 2020
Tuovinen Elina A, Grönholm Juha, Öhman Tiina, Pöysti Sakari, Toivonen Raine, Kreutzman Anna, Heiskanen Kaarina, Trotta Luca, Toiviainen-Salo Sanna, Routes John M, Verbsky James, Mustjoki Satu, Saarela Janna, Kere Juha, Varjosalo Markku, Hänninen Arno, Seppänen Mikko R J
Abstract excerpt
Hypomorphic IL2RG mutations may lead to milder phenotypes than X-SCID, named variably as atypical X-SCID or X-CID. We report an 11-year-old boy with a novel c. 172C>T;p.(Pro58Ser) mutation in IL2RG, presenting with atypical X-SCID phenotype. We also review the growing number of hypomorphic IL2RG mutations causing atypical X-SCID. We studied the patient's clinical phenotype, B, T, NK, and dendritic cell...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.