Associated Papers
NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis.
Bi X et al.
Journal of Hematology & Oncology, 2022
35902954 (PubMed )
Supplement: 13045_2022_1318_MOESM2_ESM.xlsx › Table_S6
Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies.
Rispoli F et al.
Diagnostics (basel, Switzerland), 2021
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
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
Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus.
Palendira U et al.
The Journal of Experimental Medicine, 2012
[Association of polymorphism of protein tyrosine phosphatase nonreceptor-22 gene with AITD].
Yu ZY et al.
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi = Chinese Journal of Cellular and Molecular Immunology, 2008
[A study of the association between PPARr2 gene Pro12Ala polymorphism and NAFLD].
Ye Q et al.
Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2007
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
X-linked lymphoproliferative disease is caused by deficiency of a novel SH2 domain-containing signal transduction adaptor protein.
Schuster V et al.
Immunological Reviews, 2000
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