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A Novel Homozygous Mutation With Different Clinical Presentations in 2 IRAK-4–Deficient Siblings: First Case With Recurrent Salmonellosis and Non-Hodgkin Lymphoma

Gokturk B1, Casanova JL2,3,4,5,6, Picard C2,3,4,7, Cagdas Ayvaz D8, Erman B8, Tezcan I8, Ozdemir H9, Ozel A10, Reisli I11

1Baskent University Faculty of Medicine, Department of Pediatric Allergy and Immunology, Konya, Turkey
2Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France
3St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA
4Paris Descartes University, Imagine Institute, Paris, France
5Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris AP-HP, Paris, France
6Howard Hughes Medical Institute, New York, USA
7Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris, France
8Hacettepe University Ihsan Dogramacı Children’s Hospital, Department of Pediatric Immunology, Ankara, Turkey
9Ankara University Medical School, Department of Pediatric Infectious Diseases, Ankara, Turkey
10Konya Training and Research Hospital, Department of Pediatric Nephrology, Konya, Turkey
11Necmettin Erbakan University Meram Medical Faculty, Department of Pediatrics, Division of Pediatric Allergy and Immunology, Konya, Turkey

J Investig Allergol Clin Immunol 2018; Vol 28(4) : 271-273
doi: 10.18176/jiaci.0261

Key words: IRAK-4 deficiency, Invasive pyogenic infections, Non-Hodgkin lymphoma, Pseudomonas aeruginosa meningitis, Recurrent salmonellosis