Associated Papers
Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.
Odintsov I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection.
Li J et al.
Frontiers in Immunology, 2025
X-linked lymphoproliferative disease type 1: a clinical and genetic update.
Li J et al.
Frontiers in Immunology, 2025
The unveiled face of IEI: Children Cancer Hospital-Egypt (CCHE-57357) experience.
Radwan N et al.
Frontiers in Immunology, 2025
A case of adult-onset X-linked lymphoproliferative disease mimicking pulmonary infection.
Xu J et al.
Bmc Infectious Diseases, 2024
Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.
Aykut A et al.
Immunologic Research, 2024
Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.
Barmettler S et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2022
Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India.
Lashkari HP et al.
Indian Journal of Pediatrics, 2022
Exon skipping caused by a complex structural variation in SH2D1A resulted in X-linked lymphoproliferative syndrome type 1.
Wu L et al.
Molecular Genetics & Genomic Medicine, 2022
Genome Editing With TALEN, CRISPR-Cas9 and CRISPR-Cas12a in Combination With AAV6 Homology Donor Restores T Cell Function for XLP.
Houghton BC et al.
Frontiers in Genome Editing, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity.
Ripen AM et al.
Clinical and Experimental Immunology, 2021
Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients.
Bąbol-Pokora K et al.
Archivum Immunologiae Et Therapiae Experimentalis, 2021
[Cerebral vasculitis in X-linked lymphoproliferative disease in a Chinese patient].
Liu LY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021
X-Linked Lymphoproliferative Disease Mimicking Multisystem Inflammatory Syndrome in Children-A Case Report.
Prader S et al.
Frontiers in Pediatrics, 2021
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease.
Torralba-Raga L et al.
Pediatric Blood & Cancer, 2020
X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic.
Xu T et al.
European Journal of Pediatrics, 2020
The Natural History of X-Linked Lymphoproliferative Disease (XLP1): Lessons from a Long-Term Survivor.
Jiang Y et al.
Case Reports in Immunology, 2020
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
Germline Predisposition to Hematolymphoid Neoplasia.
Weinberg OK et al.
American Journal of Clinical Pathology, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 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
First Report of an SH2D1A Mutation Associated with X-Linked Lymphoproliferative Disease in Turkey
Kesici S et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2018
Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.
Chen X et al.
Clinical Genetics, 2018
[Two families of X-linked lymphoproliferative disease type 1 characterized by agammaglobulinemia].
Li WY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017
Variable clinical phenotypes of X-linked lymphoproliferative syndrome in China: Report of five cases with three novel mutations and review of the literature.
Jin YY et al.
Human Immunology, 2016
Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant.
Gray PE 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
Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis.
Meazza R et al.
The Journal of Allergy and Clinical Immunology, 2014
Clinical and molecular characteristics of Chinese patients with X-linked lymphoproliferative syndrome type 1.
An YF et al.
Pediatric Blood & Cancer, 2014
Reduced-intensity conditioning hematopoietic cell transplantation is an effective treatment for patients with SLAM-associated protein deficiency/X-linked lymphoproliferative disease type 1.
Marsh RA et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2014
Clinical flow cytometric screening of SAP and XIAP expression accurately identifies patients with SH2D1A and XIAP/BIRC4 mutations.
Gifford CE et al.
Cytometry. Part B, Clinical Cytometry, 2014
SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis.
Yang X et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2012
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
Stable low-level donor-cell engraftment in a patient with X-linked lymphoproliferative disease following matched unrelated allo-SCT.
Haslam K et al.
Bone Marrow Transplantation, 2011
[Genetic and proteinic analysis of a Chinese boy with X-linked lymphoproliferative disease and his maternal relatives].
Yang X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
An atypical case of X-linked lymphoproliferative disease revealed as a late cerebral lymphoma.
Hervier B et al.
Journal of Neuroimmunology, 2010
Lymphocytic vasculitis involving the central nervous system occurs in patients with X-linked lymphoproliferative disease in the absence of Epstein-Barr virus infection.
Talaat KR et al.
Pediatric Blood & Cancer, 2009
Adolescent presentation of x-linked lymphoproliferative disease.
Friedlander SL et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2008
X-linked lymphoproliferative disease in an adult.
Hoshino T et al.
International Journal of Hematology, 2005
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
Regulation of NKT cell development by SAP, the protein defective in XLP.
Nichols KE et al.
Nature Medicine, 2005
Molecular and cellular pathogenesis of X-linked lymphoproliferative disease.
Nichols KE et al.
Immunological Reviews, 2005
X-linked lymphoproliferative syndrome presenting with systemic lymphocytic vasculitis.
Kanegane H et al.
American Journal of Hematology, 2005
Persistent hypogammaglobulinemia following mononucleosis in boys is highly suggestive of X-linked lymphoproliferative disease--report of three cases.
Hügle B et al.
Journal of Clinical Immunology, 2004
[Lymphoproliferative disorders caused by hereditary genetic defects].
Kanegane H et al.
Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2003
Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection.
Shinozaki K et al.
International Immunology, 2002