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

Delfien Bogaert, Melissa Dullaers UGent, Hye Sun Kuehn, Bart Leroy UGent, Julie E Niemela, Hans De Wilde, Sarah De Schryver, Marieke De Bruyne, Frauke Coppieters, Bart Lambrecht UGent, et al. (2017) SCIENTIFIC REPORTS. 7.
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 KMT2-Aassociated 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.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
KMT2A MLL, RETINAL DYSTROPHY, HEALTHY-CHILDREN, MUTATION, FRAGMENTS, SUBSETS, AGE
journal title
SCIENTIFIC REPORTS
Sci. Rep.
volume
7
article number
3702
pages
12 pages
Web of Science type
Article
Web of Science id
000403413700064
ISSN
2045-2322
DOI
10.1038/s41598-017-02434-4
language
English
UGent publication?
yes
classification
A1
additional info
the last two authors contributed equally to this work
copyright statement
Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)
id
8525243
handle
http://hdl.handle.net/1854/LU-8525243
date created
2017-06-27 08:05:53
date last changed
2018-01-05 15:24:08
@article{8525243,
  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 KMT2-Aassociated 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.},
  articleno    = {3702},
  author       = {Bogaert, Delfien and Dullaers, Melissa and Kuehn, Hye Sun and Leroy, Bart and Niemela, Julie E and De Wilde, Hans and De Schryver, Sarah and De Bruyne, Marieke and Coppieters, Frauke and Lambrecht, Bart and De Baets, Frans and Rosenzweig, Sergio D and De Baere, Elfride and HAERYNCK, FILOMEEN},
  issn         = {2045-2322},
  journal      = {SCIENTIFIC REPORTS},
  keyword      = {KMT2A MLL,RETINAL DYSTROPHY,HEALTHY-CHILDREN,MUTATION,FRAGMENTS,SUBSETS,AGE},
  language     = {eng},
  pages        = {12},
  title        = {Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes},
  url          = {http://dx.doi.org/10.1038/s41598-017-02434-4},
  volume       = {7},
  year         = {2017},
}

Chicago
Bogaert, Delfien, Melissa Dullaers, Hye Sun Kuehn, Bart Leroy, Julie E Niemela, Hans De Wilde, Sarah De Schryver, et al. 2017. “Early-onset Primary Antibody Deficiency Resembling Common Variable Immunodeficiency Challenges the Diagnosis of Wiedeman-Steiner and Roifman Syndromes.” Scientific Reports 7.
APA
Bogaert, Delfien, Dullaers, M., Kuehn, H. S., Leroy, B., Niemela, J. E., De Wilde, H., De Schryver, S., et al. (2017). Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes. SCIENTIFIC REPORTS, 7.
Vancouver
1.
Bogaert D, Dullaers M, Kuehn HS, Leroy B, Niemela JE, De Wilde H, et al. Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes. SCIENTIFIC REPORTS. 2017;7.
MLA
Bogaert, Delfien, Melissa Dullaers, Hye Sun Kuehn, et al. “Early-onset Primary Antibody Deficiency Resembling Common Variable Immunodeficiency Challenges the Diagnosis of Wiedeman-Steiner and Roifman Syndromes.” SCIENTIFIC REPORTS 7 (2017): n. pag. Print.