PID in disguise : molecular diagnosis of IRAK-4 deficiency in an adult previously misdiagnosed with autosomal dominant hyper IgE syndrome
- Author
- Glynis Frans, Leen Moens, Rik Schrijvers, Greet Wuyts, Bernard Bouckaert, Heidi Schaballie (UGent) , Lieven Dupont, Xavier Bossuyt, Anniek Corveleyn and Isabelle Meyts
- Organization
- Abstract
- Autosomal recessive IL-1R-associated kinase 4 (IRAK-4) deficiency is a rare cause of recurrent pyogenic infections with limited inflammatory responses. We describe an adult female patient with severe lung disease who was phenotypically diagnosed as suffering from autosomal dominant Hyper IgE syndrome (AD HIES) because of recurrent skin infections with Staphylococcus aureus, recurrent pneumonia and elevated serum IgE levels. In contrast to findings in AD HIES patients, no abnormalities were found in the Th17 and circulating follicular helper T cell subsets. A panel-based sequencing approach led to the identification of a homozygous IRAK4 stop mutation (c.877C > T, p.Gln293*).
- Keywords
- Primary immunodeficiency, IRAK-4, hyper IgE syndrome, next-generation sequencing, PYOGENIC BACTERIAL-INFECTIONS, CLINICAL-FEATURES, STAT3, MUTATIONS, MYD88, INTERLEUKIN-1, HUMANS, IMPAIR, CELLS
Citation
Please use this url to cite or link to this publication: http://hdl.handle.net/1854/LU-01J82GQDSE1YWAF6ANZ4BKHTVG
- MLA
- Frans, Glynis, et al. “PID in Disguise : Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed with Autosomal Dominant Hyper IgE Syndrome.” JOURNAL OF CLINICAL IMMUNOLOGY, vol. 35, no. 8, 2015, pp. 739–44, doi:10.1007/s10875-015-0205-x.
- APA
- Frans, G., Moens, L., Schrijvers, R., Wuyts, G., Bouckaert, B., Schaballie, H., … Meyts, I. (2015). PID in disguise : molecular diagnosis of IRAK-4 deficiency in an adult previously misdiagnosed with autosomal dominant hyper IgE syndrome. JOURNAL OF CLINICAL IMMUNOLOGY, 35(8), 739–744. https://doi.org/10.1007/s10875-015-0205-x
- Chicago author-date
- Frans, Glynis, Leen Moens, Rik Schrijvers, Greet Wuyts, Bernard Bouckaert, Heidi Schaballie, Lieven Dupont, Xavier Bossuyt, Anniek Corveleyn, and Isabelle Meyts. 2015. “PID in Disguise : Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed with Autosomal Dominant Hyper IgE Syndrome.” JOURNAL OF CLINICAL IMMUNOLOGY 35 (8): 739–44. https://doi.org/10.1007/s10875-015-0205-x.
- Chicago author-date (all authors)
- Frans, Glynis, Leen Moens, Rik Schrijvers, Greet Wuyts, Bernard Bouckaert, Heidi Schaballie, Lieven Dupont, Xavier Bossuyt, Anniek Corveleyn, and Isabelle Meyts. 2015. “PID in Disguise : Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed with Autosomal Dominant Hyper IgE Syndrome.” JOURNAL OF CLINICAL IMMUNOLOGY 35 (8): 739–744. doi:10.1007/s10875-015-0205-x.
- Vancouver
- 1.Frans G, Moens L, Schrijvers R, Wuyts G, Bouckaert B, Schaballie H, et al. PID in disguise : molecular diagnosis of IRAK-4 deficiency in an adult previously misdiagnosed with autosomal dominant hyper IgE syndrome. JOURNAL OF CLINICAL IMMUNOLOGY. 2015;35(8):739–44.
- IEEE
- [1]G. Frans et al., “PID in disguise : molecular diagnosis of IRAK-4 deficiency in an adult previously misdiagnosed with autosomal dominant hyper IgE syndrome,” JOURNAL OF CLINICAL IMMUNOLOGY, vol. 35, no. 8, pp. 739–744, 2015.
@article{01J82GQDSE1YWAF6ANZ4BKHTVG,
abstract = {{Autosomal recessive IL-1R-associated kinase 4 (IRAK-4) deficiency is a rare cause of recurrent pyogenic infections with limited inflammatory responses. We describe an adult female patient with severe lung disease who was phenotypically diagnosed as suffering from autosomal dominant Hyper IgE syndrome (AD HIES) because of recurrent skin infections with Staphylococcus aureus, recurrent pneumonia and elevated serum IgE levels. In contrast to findings in AD HIES patients, no abnormalities were found in the Th17 and circulating follicular helper T cell subsets. A panel-based sequencing approach led to the identification of a homozygous IRAK4 stop mutation (c.877C > T, p.Gln293*).}},
author = {{Frans, Glynis and Moens, Leen and Schrijvers, Rik and Wuyts, Greet and Bouckaert, Bernard and Schaballie, Heidi and Dupont, Lieven and Bossuyt, Xavier and Corveleyn, Anniek and Meyts, Isabelle}},
issn = {{0271-9142}},
journal = {{JOURNAL OF CLINICAL IMMUNOLOGY}},
keywords = {{Primary immunodeficiency,IRAK-4,hyper IgE syndrome,next-generation sequencing,PYOGENIC BACTERIAL-INFECTIONS,CLINICAL-FEATURES,STAT3,MUTATIONS,MYD88,INTERLEUKIN-1,HUMANS,IMPAIR,CELLS}},
language = {{eng}},
number = {{8}},
pages = {{739--744}},
title = {{PID in disguise : molecular diagnosis of IRAK-4 deficiency in an adult previously misdiagnosed with autosomal dominant hyper IgE syndrome}},
url = {{http://doi.org/10.1007/s10875-015-0205-x}},
volume = {{35}},
year = {{2015}},
}
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