Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants

2021 ◽  
pp. 108910
Author(s):  
Chantal E. Hargreaves ◽  
Fatima Dhalla ◽  
Arzoo M. Patel ◽  
Andrés Caballero Garcia de Oteyza ◽  
Elizabeth Bateman ◽  
...  
Keyword(s):  
Immune Deficiency ◽  
Late Onset ◽  
Combined Immune Deficiency

scholarly journals Late‐Onset Combined Immune Deficiency: A Subset of Common Variable Immunodeficiency with Severe T Cell Defect

2009 ◽  
Vol 49 (9) ◽  
pp. 1329-1338 ◽  
Author(s):  
Marion Malphettes ◽  
Laurence Gérard ◽  
Maryvonnick Carmagnat ◽  
Gaël Mouillot ◽  
Nicolas Vince ◽  
...  
Keyword(s):  
Immune Deficiency ◽  
T Cell ◽  
Common Variable Immunodeficiency ◽  
Late Onset ◽  
Combined Immune Deficiency ◽  
Common Variable ◽  
Cell Defect

Terminal Deletion of 11q with Significant Late-Onset Combined Immune Deficiency

2013 ◽  
Vol 34 (1) ◽  
pp. 114-118 ◽  
Author(s):  
Mikko Seppänen ◽  
Hannele Koillinen ◽  
Satu Mustjoki ◽  
Mölkänen Tomi ◽  
Kathleen E. Sullivan
Keyword(s):  
Immune Deficiency ◽  
Late Onset ◽  
Terminal Deletion ◽  
Combined Immune Deficiency

Late-onset combined immune deficiency due to LIGIV mutations in a 12-year-old patient

2017 ◽  
Vol 28 (2) ◽  
pp. 203-206 ◽  
Author(s):  
Cristina Cifaldi ◽  
Giulia Angelino ◽  
Maria Chiriaco ◽  
Silvia Di Cesare ◽  
Alessia Claps ◽  
...  
Keyword(s):  
Immune Deficiency ◽  
Late Onset ◽  
Combined Immune Deficiency

Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14years old male

2013 ◽  
Vol 74 (1) ◽  
pp. 18-22 ◽  
Author(s):  
Svetlana O. Sharapova ◽  
Alexandr Migas ◽  
Irina Guryanova ◽  
Svetlana Aleshkevich ◽  
Semen Kletski ◽  
...  
Keyword(s):  
Immune Deficiency ◽  
Late Onset ◽  
Rag1 Gene ◽  
Combined Immune Deficiency
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