作者
Reza Yazdani, Hassan Abolhassani, Fatemeh Kiaee, Sima Habibi, Gholamreza Azizi, Marzieh Tavakol, Zahra Chavoshzadeh, Seyed Alireza Mahdaviani, Tooba Momen, Mohammad Gharagozlou, Masoud Movahedi, Amir Ali Hamidieh, Nasrin Behniafard, Mohammamd Nabavi, Mohammad Hassan Bemanian, Saba Arshi, Rasol Molatefi, Roya Sherkat, Afshin Shirkani, Reza Amin, Soheila Aleyasin, Reza Faridhosseini, Farahzad Jabbari-Azad, Iraj Mohammadzadeh, Javad Ghaffari, Alireza Shafiei, Arash Kalantari, Mahboubeh Mansouri, Mehrnaz Mesdaghi, Delara Babaie, Hamid Ahanchian, Maryam Khoshkhui, Habib Soheili, Mohammad Hossein Eslamian, Taher Cheraghi, Abbas Dabbaghzadeh, Mahmoud Tavassoli, Rasoul Nasiri Kalmarzi, Seyed Hamidreza Mortazavi, Sara Kashef, Hossein Esmaeilzadeh, Javad Tafaroji, Abbas Khalili, Fariborz Zandieh, Mahnaz Sadeghi-Shabestari, Sepideh Darougar, Fatemeh Behmanesh, Hedayat Akbari, Mohammadreza Zandkarimi, Farhad Abolnezhadian, Abbas Fayezi, Mojgan Moghtaderi, Akefeh Ahmadiafshar, Behzad Shakerian, Vahid Sajedi, Behrang Taghvaei, Mojgan Safari, Marzieh Heidarzadeh, Babak Ghalebaghi, Seyed Mohammad Fathi, Behzad Darabi, Saeed Bazregari, Nasrin Bazargan, Morteza Fallahpour, Alireza Khayatzadeh, Naser Javahertrash, Bahram Bashardoust, Mohammadali Zamani, Azam Mohsenzadeh, Sarehsadat Ebrahimi, Samin Sharafian, Ahmad Vosughimotlagh, Mitra Tafakoridelbari, Maziar Rahim, Parisa Ashournia, Anahita Razaghian, Arezou Rezaei, Ashraf Samavat, Setareh Mamishi, Hossein Ali Khazaei, Javad Mohammadi, Babak Negahdari, Nima Parvaneh, Nima Rezaei, Vassilios Lougaris, Silvia Giliani, Alessandro Plebani, Hans D Ochs, Lennart Hammarström, Asghar Aghamohammadi
发表日期
2019/3/1
期刊
The Journal of Allergy and Clinical Immunology: In Practice
卷号
7
期号
3
页码范围
864-878. e9
出版商
Elsevier
简介
Background
Predominantly antibody deficiencies (PADs) are the most common primary immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate effective antibody responses.
Objective
We intended to report most common monogenic PADs and to investigate how patients with PAD who were primarily diagnosed as suffering from agammaglobulinemia, hyper-IgM (HIgM) syndrome, and common variable immunodeficiency (CVID) have different clinical and immunological findings.
Methods
Stepwise next-generation sequencing and Sanger sequencing were performed for confirmation of the mutations in the patients clinically diagnosed as suffering from agammaglobulinemia, HIgM syndrome, and CVID.
Results
Among 550 registered patients, the predominant genetic defects associated with agammaglobulinemia (48 Bruton's tyrosine kinase [BTK] and 6 μ heavy chain deficiencies), HIgM …
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R Yazdani, H Abolhassani, F Kiaee, S Habibi, G Azizi… - The Journal of Allergy and Clinical Immunology: In …, 2019