Associated Papers
Severe XLP Phenotype Caused by a Novel Intronic Mutation in the SH2D1A Gene.
Tóth B et al.
Journal of Clinical Immunology, 2015
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
Variable presentation of primary immune deficiency: two cases with CD3 gamma deficiency presenting with only autoimmunity.
Tokgoz H et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2013
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