Diagnostic challenges for a novel SH2D1A mutation associated with X‐linked lymphoproliferative disease-Reference-Cited by-同舟云学术

Diagnostic challenges for a novel SH2D1A mutation associated with X‐linked lymphoproliferative disease

Published:2020-01-29 Issue:4 Volume:67 Page:
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatr Blood Cancer

Author:

Torralba‐Raga Lamberto¹,Tesi Bianca²³,Chiang Samuel C. C.¹,Schlums Heinrich¹,Nordenskjöld Magnus³,Horne AnnaCarin⁴⁵,Henter Jan‐Inge²,Meeths Marie²³,Abdelhaleem Mohamed⁶,Weitzman Sheila⁷,Bryceson Yenan¹⁸^ORCID

Affiliation:

1. Department of Medicine, Centre for Hematology and Regenerative Medicine, Karolinska InstitutetKarolinska University Hospital Huddinge Stockholm Sweden

2. Clinical GeneticsKarolinska University Hospital Solna Stockholm Sweden

3. Department of Molecular Medicine and SurgeryKarolinska Institutet Stockholm Sweden

4. Department of Women's and Children's HealthKarolinska University Hospital Stockholm Sweden

5. Paediatric Rheumatology DepartmentKarolinska University Hospital Stockholm Sweden

6. Department of Paediatric Laboratory MedicineHospital for Sick Children Toronto Canada

7. Division of Pediatric Hematology/OncologyThe Hospital for Sick Children and the University of Toronto Toronto Canada

8. Broegelmann Research LaboratoryInstitute of Clinical SciencesUniversity of Bergen Bergen Norway

Funder

European Research Council

Seventh Framework Programme

H2020 European Research Council

Vetenskapsrådet

Stiftelsen för Strategisk Forskning

Swedish Cancer Foundation

Knut och Alice Wallenbergs Stiftelse

Karolinska Institutet

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.28184

Reference20 articles.

1. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

2. Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome

3. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM

4. X-linked lymphoproliferative syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma

5. X-linked lymphoproliferative syndromes: brothers or distant cousins?

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