Associated Papers
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
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
A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses.
Sumegi J et al.
Leukemia & Lymphoma, 2002
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