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J Clin Immunol. 2015 Nov;35(8):739-44. doi: 10.1007/s10875-015-0205-x. Epub 2015 Oct 15.

PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome.

Author information

1
Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
2
Department of Microbiology and Immunology, Laboratory of Clinical Immunology, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
3
Department of Respiratory Disease, AZ Delta Roeselare, Wilgenstraat 2, 8800, Roeselare, Belgium.
4
Department of Microbiology and Immunology, Childhood Immunology, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
5
Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
6
Department of Respiratory Disease, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
7
Department of Laboratory Medicine, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
8
Department of Human Genetics, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
9
Department of Microbiology and Immunology, Childhood Immunology, KU Leuven, Herestraat 49, 3000, Leuven, Belgium. Isabelle.meyts@uzleuven.be.
10
Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium. Isabelle.meyts@uzleuven.be.

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:

IRAK-4; Primary immunodeficiency; hyper IgE syndrome; next-generation sequencing

PMID:
26472314
DOI:
10.1007/s10875-015-0205-x
[Indexed for MEDLINE]

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