atypical scid
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Genes ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 35
Author(s):  
Yujuan Hou ◽  
Hans Peter Gratz ◽  
Guillermo Ureña-Bailén ◽  
Paul G. Gratz ◽  
Karin Schilbach-Stückle ◽  
...  

Mutations of the IL2RG gene, which encodes for the interleukin-2 receptor common gamma chain (γC, CD132), can lead to X-linked severe combined immunodeficiency (X-SCID) associated with a T−B+NK− phenotype as a result of dysfunctional γC-JAK3-STAT5 signaling. Lately, hypomorphic mutations of the IL2RG gene have been described causing atypical SCID with a milder phenotype. Here, we report three brothers with low-normal lymphocyte counts and susceptibility to recurrent respiratory infections and cutaneous warts. The clinical presentation combined with dysgammaglobulinemia suspected an inherited immunity disorder, which has been proven by Next Generation Sequencing as a novel c.458T > C; p.Ile153Thr IL2RG missense-mutation. Subsequent functional characterization revealed impaired T-cell proliferation, low TREC levels and a skewed TCR Vβ repertoire in all three patients. Interestingly, investigation of various subpopulations showed normal expression of CD132 but with partially impaired STAT5 phosphorylation compared to healthy controls. Additionally, we performed precise genetic analysis of subpopulations revealing spontaneous somatic reversion, predominately in lymphoid derived CD3+, CD4+ and CD8+ T cells. Our data demonstrate that the atypical SCID phenotype noticed in these three brothers is due to the combination of hypomorphic IL-2RG function and somatic reversion.


2020 ◽  
Vol 11 ◽  
Author(s):  
Maria Chitty-Lopez ◽  
Emma Westermann-Clark ◽  
Irina Dawson ◽  
Boglarka Ujhazi ◽  
Krisztian Csomos ◽  
...  

2019 ◽  
Vol 201 ◽  
pp. 30-34 ◽  
Author(s):  
Inga Tometten ◽  
Kerstin Felgentreff ◽  
Manfred Hönig ◽  
Fabian Hauck ◽  
Michael H. Albert ◽  
...  
Keyword(s):  

2011 ◽  
Vol 12 (6) ◽  
pp. 434-444 ◽  
Author(s):  
H IJspeert ◽  
A C Lankester ◽  
J M van den Berg ◽  
W Wiegant ◽  
M C van Zelm ◽  
...  

2008 ◽  
Vol 28 (5) ◽  
pp. 588-592 ◽  
Author(s):  
Line Ohm-Laursen ◽  
Christian Nielsen ◽  
Niels Fisker ◽  
Søren Thue Lillevang ◽  
Torben Barington

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