Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

Abstract Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made based on extra-immunological abnormali...

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Autores principales:	Delfien J. Bogaert, Melissa Dullaers, Hye Sun Kuehn, Bart P. Leroy, Julie E. Niemela, Hans De Wilde, Sarah De Schryver, Marieke De Bruyne, Frauke Coppieters, Bart N. Lambrecht, Frans De Baets, Sergio D. Rosenzweig, Elfride De Baere, Filomeen Haerynck
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/f68a77738ec346f0b26833713134e241
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spelling	oai:doaj.org-article:f68a77738ec346f0b26833713134e2412021-12-02T15:06:11ZEarly-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes10.1038/s41598-017-02434-42045-2322https://doaj.org/article/f68a77738ec346f0b26833713134e2412017-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-02434-4https://doaj.org/toc/2045-2322Abstract Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made based on extra-immunological abnormalities. Here, we report two sibling pairs with syndromic primary immunodeficiencies that exceptionally presented with a phenotype resembling early-onset common variable immunodeficiency, while extra-immunological characteristics were not apparent at that time. Additional features not typically associated with common variable immunodeficiency were diagnosed only later, including skeletal and organ anomalies and mild facial dysmorphism. Whole exome sequencing revealed KMT2A-associated Wiedemann-Steiner syndrome in one sibling pair and their mother. In the other sibling pair, targeted testing of the known disease gene for Roifman syndrome (RNU4ATAC) provided a definite diagnosis. With this study, we underline the importance of an early-stage and thorough genetic assessment in paediatric patients with a common variable immunodeficiency phenotype, to establish a conclusive diagnosis and guide patient management. In addition, this study extends the mutational and immunophenotypical spectrum of Wiedemann-Steiner and Roifman syndromes and highlights potential directions for future pathophysiological research.Delfien J. BogaertMelissa DullaersHye Sun KuehnBart P. LeroyJulie E. NiemelaHans De WildeSarah De SchryverMarieke De BruyneFrauke CoppietersBart N. LambrechtFrans De BaetsSergio D. RosenzweigElfride De BaereFilomeen HaerynckNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-12 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Delfien J. Bogaert Melissa Dullaers Hye Sun Kuehn Bart P. Leroy Julie E. Niemela Hans De Wilde Sarah De Schryver Marieke De Bruyne Frauke Coppieters Bart N. Lambrecht Frans De Baets Sergio D. Rosenzweig Elfride De Baere Filomeen Haerynck Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
description	Abstract Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made based on extra-immunological abnormalities. Here, we report two sibling pairs with syndromic primary immunodeficiencies that exceptionally presented with a phenotype resembling early-onset common variable immunodeficiency, while extra-immunological characteristics were not apparent at that time. Additional features not typically associated with common variable immunodeficiency were diagnosed only later, including skeletal and organ anomalies and mild facial dysmorphism. Whole exome sequencing revealed KMT2A-associated Wiedemann-Steiner syndrome in one sibling pair and their mother. In the other sibling pair, targeted testing of the known disease gene for Roifman syndrome (RNU4ATAC) provided a definite diagnosis. With this study, we underline the importance of an early-stage and thorough genetic assessment in paediatric patients with a common variable immunodeficiency phenotype, to establish a conclusive diagnosis and guide patient management. In addition, this study extends the mutational and immunophenotypical spectrum of Wiedemann-Steiner and Roifman syndromes and highlights potential directions for future pathophysiological research.
format	article
author	Delfien J. Bogaert Melissa Dullaers Hye Sun Kuehn Bart P. Leroy Julie E. Niemela Hans De Wilde Sarah De Schryver Marieke De Bruyne Frauke Coppieters Bart N. Lambrecht Frans De Baets Sergio D. Rosenzweig Elfride De Baere Filomeen Haerynck
author_facet	Delfien J. Bogaert Melissa Dullaers Hye Sun Kuehn Bart P. Leroy Julie E. Niemela Hans De Wilde Sarah De Schryver Marieke De Bruyne Frauke Coppieters Bart N. Lambrecht Frans De Baets Sergio D. Rosenzweig Elfride De Baere Filomeen Haerynck
author_sort	Delfien J. Bogaert
title	Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
title_short	Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
title_full	Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
title_fullStr	Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
title_full_unstemmed	Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
title_sort	early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of wiedeman-steiner and roifman syndromes
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/f68a77738ec346f0b26833713134e241
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Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

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