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

Journal of Clinical Immunology

Volumn 35, Issue 8, 2015, Pages 739-744

  Frans, Glynis ^a   Moens, Leen ^a   Schrijvers, Rik ^a   Wuyts, Greet ^a   Bouckaert, Bernard ^b   Schaballie, Heidi ^a,c   Dupont, Lieven ^c   Bossuyt, Xavier ^a,c   Corveleyn, Anniek ^c   Meyts, Isabelle ^a,c  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b AZ Delta Roeselare ^*  (Belgium)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

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

Indexed keywords

AMPHOTERICIN B; IMMUNOGLOBULIN E; INTERLEUKIN 1 RECEPTOR ASSOCIATED KINASE 4; VORICONAZOLE; INTERLEUKIN 1 RECEPTOR ASSOCIATED KINASE; INTERLEUKIN 6; IRAK4 PROTEIN, HUMAN;

ADULT; ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS; ARTICLE; ASPERGILLUS FUMIGATUS; AUTOSOMAL DOMINANT HYPER IGE SYNDROME; CASE REPORT; CHRONIC LUNG DISEASE; FEMALE; FEVER; GENE MUTATION; HELPER CELL; HOMOZYGOTE; HUMAN; HYPER IGE SYNDROME; IMMUNE DEFICIENCY; LUNG RESECTION; MOLECULAR DIAGNOSIS; PERIPHERAL BLOOD MONONUCLEAR CELL; PHENOTYPE; PNEUMONIA; PRIORITY JOURNAL; PSEUDOMONAS AERUGINOSA; RESPIRATORY TRACT INFECTION; SKIN ABSCESS; SKIN INFECTION; SPUTUM CULTURE; STAPHYLOCOCCUS AUREUS; STREPTOCOCCUS PNEUMONIAE; STREPTOCOCCUS PYOGENES; T LYMPHOCYTE SUBPOPULATION; BLOOD; CELL CULTURE; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; GENE DELETION; GENETICS; HIGH THROUGHPUT SEQUENCING; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOLOGY; JOB SYNDROME; METABOLISM; MICROBIOLOGY; MOLECULAR PATHOLOGY; SKIN; STAPHYLOCOCCAL INFECTIONS; TH17 CELL;

ADULT; CELLS, CULTURED; DIAGNOSIS, DIFFERENTIAL; DIAGNOSTIC ERRORS; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IMMUNOGLOBULIN E; IMMUNOLOGIC DEFICIENCY SYNDROMES; INTERLEUKIN-1 RECEPTOR-ASSOCIATED KINASES; INTERLEUKIN-6; JOB SYNDROME; PATHOLOGY, MOLECULAR; PNEUMONIA; SEQUENCE DELETION; SKIN; STAPHYLOCOCCAL INFECTIONS; STAPHYLOCOCCUS AUREUS; TH17 CELLS;

EID: 84948571559     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-015-0205-x     Document Type: Article

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