title: PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome.
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*).
authors.affiliation: Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
authors.forename: Glynis
authors.initials: G
authors.lastname: Frans
authors.affiliation: Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
authors.forename: Leen
authors.initials: L
authors.lastname: Moens
authors.affiliation: Department of Microbiology and Immunology, Laboratory of Clinical Immunology, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
authors.forename: Rik
authors.initials: R
authors.lastname: Schrijvers
authors.affiliation: Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.
authors.forename: Greet
authors.initials: G
authors.lastname: Wuyts
authors.affiliation: Department of Respiratory Disease, AZ Delta Roeselare, Wilgenstraat 2, 8800, Roeselare, Belgium.
authors.forename: Bernard
authors.initials: B
authors.lastname: Bouckaert
authors.affiliation: Department of Microbiology and Immunology, Childhood Immunology, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.|Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
authors.forename: Heidi
authors.initials: H
authors.lastname: Schaballie
authors.affiliation: Department of Respiratory Disease, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
authors.forename: Lieven
authors.initials: L
authors.lastname: Dupont
authors.affiliation: Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.|Department of Laboratory Medicine, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
authors.forename: Xavier
authors.initials: X
authors.lastname: Bossuyt
authors.affiliation: Department of Human Genetics, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
authors.forename: Anniek
authors.initials: A
authors.lastname: Corveleyn
authors.affiliation: Department of Microbiology and Immunology, Childhood Immunology, KU Leuven, Herestraat 49, 3000, Leuven, Belgium. Isabelle.meyts@uzleuven.be.|Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium. Isabelle.meyts@uzleuven.be.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Meyts
mesh_terms: D000328:Adult; D002478:Cells, Cultured; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics; D053592:Interleukin-1 Receptor-Associated Kinases / Q000235:genetics*; D015850:Interleukin-6 / Q000378:metabolism; D007589:Job Syndrome / Q000175:diagnosis*; D057089:Pathology, Molecular; D011014:Pneumonia / Q000175:diagnosis*; D000081207:Primary Immunodeficiency Diseases; D017384:Sequence Deletion / Q000235:genetics; D012867:Skin / Q000276:immunology / Q000382:microbiology; D013203:Staphylococcal Infections / Q000175:diagnosis*; D013211:Staphylococcus aureus; D058504:Th17 Cells / Q000276:immunology*
chemical_list: D015850:Interleukin-6; D007073:Immunoglobulin E; C507773:IRAK4 protein, human; D053592:Interleukin-1 Receptor-Associated Kinases
keywords: IRAK-4; Primary immunodeficiency; hyper IgE syndrome; next-generation sequencing