Everolimus-Induced Remission of Classic Kaposi’s Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency-Reference-Cited by-同舟云学术

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Everolimus-Induced Remission of Classic Kaposi’s Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency

Published:2020-06-19 Issue:5 Volume:40 Page:774-779
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Yap Jin Yan,Gloss Brian,Batten Marcel,Hsu Peter,Berglund Lucinda,Cai Fenfen,Dai Pei,Parker Andrew,Qiu Min,Miley Wendell,Roshan Romin,Marshall Vickie,Whitby Denise,Wegman Eric,Garsia Roger,Wu Kathy H.C.,Kirk Edwin,Polizzotto Mark,Deenick Elissa K.,Tangye Stuart G.,Ma Cindy S.,CIRCA ,Phan Tri Giang^ORCID

Funder

National Health and Medical Research Council

John Brown Cook Foundation

Jeffrey Modell Foundation

Garvan-Weizmann Foundation

Allergy and Immunology Foundation of Australia

UNSW Triple I SPHERE Clinically Accredited Group

NSW Office of Health and Medical Research

St Vincent’s Clinic Foundation

David Cooper Memorial Fund

Frederick National Laboratory for Cancer Research

National Cancer Institute

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

https://link.springer.com/content/pdf/10.1007/s10875-020-00804-8.pdf

Reference22 articles.

1. Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science. 2014;345(6204):1623–7.

2. Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med. 2014;20(12):1410–6.

3. Schwab C, Gabrysch A, Olbrich P, Patino V, Warnatz K, Wolff D, et al. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. J Allergy Clin Immunol. 2018;142(6):1932–46.

4. Lo B, Fritz JM, Su HC, Uzel G, Jordan MB, Lenardo MJ. CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency. Blood. 2016;128(8):1037–42.

5. Serwas NK, Hoeger B, Ardy RC, Stulz SV, Sui Z, Memaran N, et al. Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis. Nat Commun. 2019;10(1):3106.

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