Ensuring Access to Immunoglobulin Therapies for People with Primary Immunodeficiency: A Need to Improve Individuals’ Quality of Life and the Sustainability of Health-care Systems

by Ahmed Aziz Bousfiha, Ahmed Aziz Bousfiha, Ahmed Aziz Bousfiha, Ahmed Aziz Bousfiha, Carla Duff, Carla Duff, Carla Duff, Carla Duff, Elena Hsieh, Elena Hsieh
Published 2017-09-01

Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases

by Ibtihal Benhsaien, Fatima Ailal, Khadija Elazhary, Jalila El bakkouri, Abdallah Badou, Ahmed Aziz Bousfiha
Published 2021-01-01

Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression

by Zineb Jouhadi, Marie Francoise Odou, Farid Zerimech, Ahmed Aziz Bousfiha, Nabiha Mikou, Nicole Porchet, Michel Crepin, Jilali Najib, Malika Balduyck
Published 2018-01-01

Primary Immunodeficiencies: A Decade of Progress and a Promising Future

by Isabelle Meyts, Isabelle Meyts, Aziz Bousfiha, Aziz Bousfiha, Carla Duff, Carla Duff, Surjit Singh, Surjit Singh, Surjit Singh, Yu Lung Lau, Antonio Condino-Neto, Antonio Condino-Neto, Antonio Condino-Neto, Antonio Condino-Neto, Liliana Bezrodnik, Liliana Bezrodnik, Adli Ali, Mehdi Adeli, Mehdi Adeli, Jose Drabwell
Published 2021-02-01

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

by Xiao-Fei Kong, Aziz Bousfiha, Abdelfettah Rouissi, Yuval Itan, Avinash Abhyankar, Vanessa Bryant, Satoshi Okada, Fatima Ailal, Jacinta Bustamante, Jean-Laurent Casanova, Jennifer Hirst, Stéphanie Boisson-Dupuis
Published 2013-01-01

IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey.

by Stéphanie Boisson-Dupuis, Jamila El Baghdadi, Nima Parvaneh, Aziz Bousfiha, Jacinta Bustamante, Jacqueline Feinberg, Arina Samarina, Audrey V Grant, Lucile Janniere, Naima El Hafidi, Amal Hassani, Daniel Nolan, Jilali Najib, Yildiz Camcioglu, Nevin Hatipoglu, Cigdem Aydogmus, Gonul Tanir, Caner Aytekin, Melike Keser, Ayper Somer, Guside Aksu, Necil Kutukculer, Davood Mansouri, Alireza Mahdaviani, Setareh Mamishi, Alexandre Alcais, Laurent Abel, Jean-Laurent Casanova
Published 2011-04-01

X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world

by Zeinab A. El-Sayed, Irina Abramova, Juan Carlos Aldave, Waleed Al-Herz, Liliana Bezrodnik, Rachida Boukari, Ahmed Aziz Bousfiha, Caterina Cancrini, Antonio Condino-Neto, Ghassan Dbaibo, Beata Derfalvi, Figen Dogu, J.David M. Edgar, Brian Eley, Rasha Hasan El-Owaidy, Sara Elva Espinosa-Padilla, Nermeen Galal, Filomeen Haerynck, Rima Hanna-Wakim, Elham Hossny, Aydan Ikinciogullari, Ebtihal Kamal, Hirokazu Kanegane, Nadia Kechout, Yu Lung Lau, Tomohiro Morio, Viviana Moschese, Joao Farela Neves, Monia Ouederni, Roberto Paganelli, Kenneth Paris, Claudio Pignata, Alessandro Plebani, Farah Naz Qamar, Sonia Qureshi, Nita Radhakrishnan, Nima Rezaei, Nelson Rosario, John Routes, Berta Sanchez, Anna Sediva, Mikko RJ. Seppanen, Edith Gonzalez Serrano, Anna Shcherbina, Surjit Singh, Sangeetha Siniah, Guiseppe Spadaro, Mimi Tang, Ana Maria Vinet, Alla Volokha, Kathleen E. Sullivan
Published 2019-01-01