A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects-Reference-Cited by-同舟云学术

A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects

Published:2019-08-20 Issue:7 Volume:39 Page:726-738
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Cagdas Deniz^ORCID,Halaçlı Sevil Oskay,Tan Çağman,Lo Bernice,Çetinkaya Pınar Gür,Esenboğa Saliha,Karaatmaca Betül,Matthews Helen,Balcı-Hayta Burcu,Arıkoğlu Tuba,Ezgü Fatih,Aladağ Elifcan,Saltık-Temizel İnci N.,Demir Hülya,Kuşkonmaz Barış,Okur Visal,Gümrük Fatma,Göker Hakan,Çetinkaya Duygu,Boztuğ Kaan,Lenardo Michael,Sanal Özden,Tezcan İlhan

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

http://link.springer.com/content/pdf/10.1007/s10875-019-00677-6.pdf

Reference31 articles.

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2. Lopez-Herrera G, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet. 2012;90(6):986–1001.

3. Bogaert DJ, et al. Genes associated with common variable immunodeficiency: one diagnosis to rule them all? J Med Genet. 2016;53(9):575–90.

4. Revel-Vilk S, et al. Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation. Clin Immunol. 2015;159(1):84–92.

5. Lo B, et al. CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency. Blood. 2016;128:1037–42. https://doi.org/10.1182/blood-2016-04-712612 .

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