Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations-Reference-Cited by-同舟云学术

Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations

Published:2017-03-16 Issue:11 Volume:129 Page:1458-1468
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Hou Tie Zheng¹,Verma Nisha¹,Wanders Jennifer¹,Kennedy Alan¹,Soskic Blagoje¹,Janman Daniel¹,Halliday Neil¹,Rowshanravan Behzad¹,Worth Austen²,Qasim Waseem²,Baxendale Helen³,Stauss Hans¹,Seneviratne Suranjith⁴,Neth Olaf⁵,Olbrich Peter⁵,Hambleton Sophie⁶,Arkwright Peter D.⁷,Burns Siobhan O.¹,Walker Lucy S. K.¹,Sansom David M.¹^ORCID

Affiliation:

1. Institute of Immunity and Transplantation, Division of Infection & Immunity, School of Life and Medical Sciences, University College London, Royal Free Hospital, London, United Kingdom;

2. Immunology Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom;

3. Papworth and Addenbrooke’s Hospital NHS Foundation Trusts, Cambridge, United Kingdom;

4. Clinical Immunology Department, Royal Free Hospital, London, United Kingdom;

5. Sección de Infectología e Inmunopatología, Unidad de Pediatría, Hospital Virgen del Rocío/Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain;

6. Primary Immunodeficiency Group, Institute of Cellular Medicine, Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom; and

7. Department of Immunology, University of Manchester, Royal Manchester Children’s Hospital, Manchester, United Kingdom

Abstract

Key Points New approaches to identifying functionally relevant mutations in CTLA-4 deficiency syndromes. Measuring responses to stimulation and degradation distinguishes between CTLA-4 and LRBA mutations.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/129/11/1458/1398617/blood745174.pdf

Reference44 articles.

1. Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions;Chapel;Br J Haematol,2009

2. Clinical picture and treatment of 2212 patients with common variable immunodeficiency;Gathmann;J Allergy Clin Immunol,2014

3. Genetic diagnosis using whole exome sequencing in common variable immunodeficiency;Maffucci;Front Immunol,2016

4. Genes associated with common variable immunodeficiency: one diagnosis to rule them all?;Bogaert;J Med Genet,2016

5. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations;Schubert;Nat Med,2014

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