X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations

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• 作者：Zahra Aadam ; Nadia Kechout ; Abdelhamid Barakat…
• 关键词：XLA ; BTK ; novel mutations ; north african population
• 刊名：Journal of Clinical Immunology
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：36
• 期：3
• 页码：187-194
• 全文大小：299 KB
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• 作者单位：Zahra Aadam (1) (2)
  Nadia Kechout (3)
  Abdelhamid Barakat (2)
  Koon-Wing Chan (4)
  Meriem Ben-Ali (5)
  Imen Ben-Mustapha (5)
  Fethi Zidi (6)
  Fatima Ailal (7)
  Nabila Attal (3)
  Fatouma Doudou (3)
  Mohamed-Cherif Abbadi (3)
  Chawki Kaddache (8)
  Leila Smati (9)
  Nabila Touri (8)
  Jalel Chemli (10)
  Tahar Gargah (11)
  Ines Brini (12)
  Amina Bakhchane (2)
  Hicham Charoute (2)
  Leila Jeddane (7)
  Sara El Atiqi (7)
  Naïma El Hafidi (13)
  Mustapha Hida (14)
  Rachid Saile (1)
  Hanane Salih Alj (1)
  Rachida Boukari (15)
  Mohamed Bejaoui (16)
  Jilali Najib (7)
  Mohamed-Ridha Barbouche (5)
  Yu-Lung Lau (4)
  Fethi Mellouli (16)
  Ahmed Aziz Bousfiha (7)
  
  1. Laboratory of Biology and Health URAC34—Metabolic and Immunologic pathology Research Team, Faculty of Science of BenM’sik, King Hassan II University, Casablanca, Morocco
  2. Institut Pasteur, Human Molecular Genetic Laboratory, Casablanca, Morocco
  3. Department of Immunology, Institut Pasteur d’Algérie, Faculty of Medicine, Algiers, Algeria
  4. Departments of Pediatrics and Adolescent Medicine, The University of Hong Kong, Pokfulam, Hong Kong
  5. Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), Institut Pasteur de Tunis, and University Tunis El Manar, Tunis, Tunisia
  6. Department of Pediatrics, Regional Hospital of Tozeur, Tozeur, Tunisia
  7. Clinical Immunology Unit, Ibn Rochd Hospital, King Hassan II University-AinChok, Casablanca, Morocco
  8. Department of Pediatrics, CHU Blida, Blida, Algeria
  9. Department of Pediatrics, EPH Bologhine, Faculty of Medicine, Algiers, Algeria
  10. Department of Pediatrics, Sahloul Hospital, Sousse, Tunisia
  11. Department of Pediatrics, Charles Nicolle Hospital, Tunis, Tunisia
  12. Department of Pediatrics B, Children’s Hospital of Tunis, Tunis, Tunisia
  13. Department of Pediatric Infectious Diseases, Avicenne University Hospital, Rabat, Morocco
  14. Department of Pediatrics, Hassan II University Hospital, Fez, Morocco
  15. Department of Pediatrics, CHU Mustapaha Bacha, Faculty of Medicine, Algiers, Algeria
  16. National Bone Marrow Transplantation Center, Jebel Lakhdar, Tunis, Tunisia
  
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Immunology
  Infectious Diseases
  Internal Medicine
  Medical Microbiology
  
• 出版者：Springer Netherlands
• ISSN：1573-2592

文摘

Purpose X-linked agammagobulinemia (XLA) is a primary immunodeficiency caused by Bruton’s tyrosine kinase (BTK) gene defect. XLA patients have absent or reduced number of peripheral B cells and a profound deficiency in all immunoglobulin isotypes. This multicenter study reports the clinical, immunological and molecular features of Bruton’s disease in 40 North African male patients.