Fatal CTLA‐4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation

Primary immunodeficiency disorders are rarely diagnosed in adults but must be considered in the differential diagnosis of combined recurrent infections and autoimmune disease. We describe a patient with CTLA‐4 haploinsufficiency and an abnormal regulatory T‐cell phenotype. Unusually, infections were...

Descripción completa

Detalles Bibliográficos
Autores principales: Moraes‐Fontes, Maria Francisca, Hsu, Amy P., Caramalho, Iris, Martins, Catarina, Araújo, Ana Carolina, Lourenço, Filipa, Taulaigo, Anna V., Lladó, Ana, Holland, Steven M., Uzel, Gulbu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715409/
https://www.ncbi.nlm.nih.gov/pubmed/29225858
http://dx.doi.org/10.1002/ccr3.1257
_version_ 1783283761219108864
author Moraes‐Fontes, Maria Francisca
Hsu, Amy P.
Caramalho, Iris
Martins, Catarina
Araújo, Ana Carolina
Lourenço, Filipa
Taulaigo, Anna V.
Lladó, Ana
Holland, Steven M.
Uzel, Gulbu
author_facet Moraes‐Fontes, Maria Francisca
Hsu, Amy P.
Caramalho, Iris
Martins, Catarina
Araújo, Ana Carolina
Lourenço, Filipa
Taulaigo, Anna V.
Lladó, Ana
Holland, Steven M.
Uzel, Gulbu
author_sort Moraes‐Fontes, Maria Francisca
collection PubMed
description Primary immunodeficiency disorders are rarely diagnosed in adults but must be considered in the differential diagnosis of combined recurrent infections and autoimmune disease. We describe a patient with CTLA‐4 haploinsufficiency and an abnormal regulatory T‐cell phenotype. Unusually, infections were more severe than autoimmunity, illustrating therapeutic challenges in disease course.
format Online
Article
Text
id pubmed-5715409
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-57154092017-12-08 Fatal CTLA‐4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation Moraes‐Fontes, Maria Francisca Hsu, Amy P. Caramalho, Iris Martins, Catarina Araújo, Ana Carolina Lourenço, Filipa Taulaigo, Anna V. Lladó, Ana Holland, Steven M. Uzel, Gulbu Clin Case Rep Case Reports Primary immunodeficiency disorders are rarely diagnosed in adults but must be considered in the differential diagnosis of combined recurrent infections and autoimmune disease. We describe a patient with CTLA‐4 haploinsufficiency and an abnormal regulatory T‐cell phenotype. Unusually, infections were more severe than autoimmunity, illustrating therapeutic challenges in disease course. John Wiley and Sons Inc. 2017-11-06 /pmc/articles/PMC5715409/ /pubmed/29225858 http://dx.doi.org/10.1002/ccr3.1257 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Moraes‐Fontes, Maria Francisca
Hsu, Amy P.
Caramalho, Iris
Martins, Catarina
Araújo, Ana Carolina
Lourenço, Filipa
Taulaigo, Anna V.
Lladó, Ana
Holland, Steven M.
Uzel, Gulbu
Fatal CTLA‐4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation
title Fatal CTLA‐4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation
title_full Fatal CTLA‐4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation
title_fullStr Fatal CTLA‐4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation
title_full_unstemmed Fatal CTLA‐4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation
title_short Fatal CTLA‐4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation
title_sort fatal ctla‐4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715409/
https://www.ncbi.nlm.nih.gov/pubmed/29225858
http://dx.doi.org/10.1002/ccr3.1257
work_keys_str_mv AT moraesfontesmariafrancisca fatalctla4heterozygositywithautoimmunityandrecurrentinfectionsadenovomutation
AT hsuamyp fatalctla4heterozygositywithautoimmunityandrecurrentinfectionsadenovomutation
AT caramalhoiris fatalctla4heterozygositywithautoimmunityandrecurrentinfectionsadenovomutation
AT martinscatarina fatalctla4heterozygositywithautoimmunityandrecurrentinfectionsadenovomutation
AT araujoanacarolina fatalctla4heterozygositywithautoimmunityandrecurrentinfectionsadenovomutation
AT lourencofilipa fatalctla4heterozygositywithautoimmunityandrecurrentinfectionsadenovomutation
AT taulaigoannav fatalctla4heterozygositywithautoimmunityandrecurrentinfectionsadenovomutation
AT lladoana fatalctla4heterozygositywithautoimmunityandrecurrentinfectionsadenovomutation
AT hollandstevenm fatalctla4heterozygositywithautoimmunityandrecurrentinfectionsadenovomutation
AT uzelgulbu fatalctla4heterozygositywithautoimmunityandrecurrentinfectionsadenovomutation

Ejemplares similares