Associated Papers
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50.
Fliegauf M et al.
Frontiers in Immunology, 2022
36105815 (PubMed )
Supplement: DataSheet_1.pdf
Genetic screening of male patients with primary hypogammaglobulinemia can guide diagnosis and clinical management.
Vince N et al.
Human Immunology, 2018
The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation.
Overwater E et al.
European Journal of Pediatrics, 2014
Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product.
Pasquier B et al.
The Journal of Experimental Medicine, 2005
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