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

Autor: Hicham Charoute, Jalel Chemli, Nabila Attal, Leila Jeddane, Yu-Lung Lau, Sara El Atiqi, Rachid Saile, Ahmed Aziz Bousfiha, Chawki Kaddache, Imen Ben-Mustapha, Fethi Mellouli, Naima El Hafidi, Mohamed Bejaoui, Hanane Salih Alj, Nabila Touri, Zahra Aadam, Leila Smati, Rachida Boukari, Mustapha Hida, Fatouma Doudou, Mohamed-Cherif Abbadi, Tahar Gargah, I. Brini, Fatima Ailal, J. Najib, Amina Bakhchane, Mohamed-Ridha Barbouche, Meriem Ben-Ali, Nadia Kechout, Koon-Wing Chan, Fethi Zidi, Abdelhamid Barakat

Publikováno v: Journal of Clinical Immunology
Journal of Clinical Immunology, Springer Verlag, 2016, 36 (3), pp.187-194. ⟨10.1007/s10875-016-0251-z⟩

International audience; 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 immunoglobu

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https://hal-riip.archives-ouvertes.fr/pasteur-01374987