Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity

We report 2 patients who first developed cutaneous manifestations, followed by autoimmune phenomena, infections, and hypogammaglobulinemia. They were initially diagnosed with common variable immunodeficiency; however, the diagnosis was revised to cytotoxic T-lymphocyte antigen 4 haploinsufficiency a...

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Autores principales: Lim, Xin Rong, Lai, Yi Wye, Chua, Choon Guan, Lim, Yen Loo, Lee, Siong See Joyce, Lim, Chia Wei, Thong, Yu-Hor Bernard, Tan, Wei-Lynn Justina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10287108/
https://www.ncbi.nlm.nih.gov/pubmed/37388811
http://dx.doi.org/10.5415/apallergy.0000000000000103
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author Lim, Xin Rong
Lai, Yi Wye
Chua, Choon Guan
Lim, Yen Loo
Lee, Siong See Joyce
Lim, Chia Wei
Thong, Yu-Hor Bernard
Tan, Wei-Lynn Justina
author_facet Lim, Xin Rong
Lai, Yi Wye
Chua, Choon Guan
Lim, Yen Loo
Lee, Siong See Joyce
Lim, Chia Wei
Thong, Yu-Hor Bernard
Tan, Wei-Lynn Justina
author_sort Lim, Xin Rong
collection PubMed
description We report 2 patients who first developed cutaneous manifestations, followed by autoimmune phenomena, infections, and hypogammaglobulinemia. They were initially diagnosed with common variable immunodeficiency; however, the diagnosis was revised to cytotoxic T-lymphocyte antigen 4 haploinsufficiency after genetic and functional testing.
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spelling pubmed-102871082023-06-29 Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity Lim, Xin Rong Lai, Yi Wye Chua, Choon Guan Lim, Yen Loo Lee, Siong See Joyce Lim, Chia Wei Thong, Yu-Hor Bernard Tan, Wei-Lynn Justina Asia Pac Allergy Case Report We report 2 patients who first developed cutaneous manifestations, followed by autoimmune phenomena, infections, and hypogammaglobulinemia. They were initially diagnosed with common variable immunodeficiency; however, the diagnosis was revised to cytotoxic T-lymphocyte antigen 4 haploinsufficiency after genetic and functional testing. Lippincott Williams & Wilkins 2023-06-06 2023-06 /pmc/articles/PMC10287108/ /pubmed/37388811 http://dx.doi.org/10.5415/apallergy.0000000000000103 Text en Copyright © 2023. Asia Pacific Association of Allergy, Asthma and Clinical Immunology. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0/) , where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Case Report
Lim, Xin Rong
Lai, Yi Wye
Chua, Choon Guan
Lim, Yen Loo
Lee, Siong See Joyce
Lim, Chia Wei
Thong, Yu-Hor Bernard
Tan, Wei-Lynn Justina
Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity
title Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity
title_full Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity
title_fullStr Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity
title_full_unstemmed Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity
title_short Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity
title_sort autoimmune manifestations of ctla-4 haploinsufficiency in two patients of southeast asian ethnicity
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10287108/
https://www.ncbi.nlm.nih.gov/pubmed/37388811
http://dx.doi.org/10.5415/apallergy.0000000000000103
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