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

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作者： B,Gokturk ^[1] ; J L,Casanova ^[2] ; C,Picard ^[3] ; D,Cagdas Ayvaz ^[4] ; B,Erman ^[5] ; I,Tezcan ^[6] ; H,Ozdemir ^[2] ; A,Ozel ^[3] ; I,Reisli ^[4]

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

关键词 IRAK-4 deficiency Invasive pyogenic infections Non-Hodgkin lymphoma Pseudomonas aeruginosa meningitis Recurrent salmonellosis