TY  -  
T1  - Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency 
SN  -  /  
UR  - http://hdl.handle.net/10138/317341 
T3  -  
A1  - 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. 
A2  -  
PB  -  
Y1  - 2020 
LA  - eng 
AB  - 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 phenotypes, IL2RG and CD25 cell surface expression, and IL-2 target gene expression, STAT tyro... 
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KW  - X-linked combined immunodeficiency diseases; severe combined immunodeficiency; atypical; interleukin receptor common gamma subunit; IL2RG; endoplasmic reticulum; Golgi apparatus; COMBINED IMMUNE-DEFICIENCY; GAMMA-CHAIN; CELL DIFFERENTIATION; INTERLEUKIN-2 IL-2; T-LYMPHOCYTES; NK-CELLS; REVERSION; BIOLOGY; DISEASE; PROLIFERATION; 3111 Biomedicine 
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