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
Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.
Crowley E et al.
Gastroenterology, 2020
A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative Disease.
Furlong E et al.
Journal of Pediatric Hematology/oncology, 2019
Modification of cellular and humoral immunity by somatically reverted T cells in X-linked lymphoproliferative syndrome type 1.
Hoshino A et al.
The Journal of Allergy and Clinical Immunology, 2019
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
Yu H et al.
The Journal of Allergy and Clinical Immunology, 2016
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
Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.
Zhizhuo H et al.
Pediatric Blood & Cancer, 2012
Molecular and immunological basis of X-linked lymphoproliferative disease.
Latour S et al.
Immunological Reviews, 2003
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