Literature DB >> 24481606

Autosomal recessive agammaglobulinemia: a novel non-sense mutation in CD79a.

Abbas Khalili1, Alessandro Plebani, Massimiliano Vitali, Hassan Abolhassani, Vassilios Lougaris, Babak Mirminachi, Nima Rezaei, Asghar Aghamohammadi.   

Abstract

This study describes the fifth case worldwide of autosomal recessive agammaglobulinemia due to a novel non-sense mutation in CD79a gene with a severe unusual onset due to an invasive central nervous system infection.

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Year:  2014        PMID： 24481606     DOI： 10.1007/s10875-014-9989-3

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


  7 in total

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Journal:  J Clin Immunol       Date:  2013-05-09       Impact factor: 8.317

2.  Mutations in Igalpha (CD79a) result in a complete block in B-cell development.

Authors:  Y Minegishi; E Coustan-Smith; L Rapalus; F Ersoy; D Campana; M E Conley
Journal:  J Clin Invest       Date:  1999-10       Impact factor: 14.808

3.  Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia.

Authors:  Yue Wang; Hirokazu Kanegane; Ozden Sanal; Ilhan Tezcan; Fügen Ersoy; Takeshi Futatani; Toshio Miyawaki
Journal:  Am J Med Genet       Date:  2002-04-01

4.  X-linked agammaglobulinemia: report on a United States registry of 201 patients.

Authors:  Jerry A Winkelstein; Mary C Marino; Howard M Lederman; Stacie M Jones; Kathleen Sullivan; A Wesley Burks; Mary Ellen Conley; Charlotte Cunningham-Rundles; Hans D Ochs
Journal:  Medicine (Baltimore)       Date:  2006-07       Impact factor: 1.889

5.  Impact of delayed diagnosis in children with primary antibody deficiencies.

Authors:  Asghar Aghamohammadi; Ahmad Bahrami; Setareh Mamishi; Babak Mohammadi; Hassan Abolhassani; Nima Parvaneh; Nima Rezaei
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Review 6.  Autosomal recessive agammaglobulinemia: novel insights from mutations in Ig-beta.

Authors:  Vassilios Lougaris; Simona Ferrari; Marco Cattalini; Annarosa Soresina; Alessandro Plebani
Journal:  Curr Allergy Asthma Rep       Date:  2008-09       Impact factor: 4.806

Review 7.  Primary B cell immunodeficiencies: comparisons and contrasts.

Authors:  Mary Ellen Conley; A Kerry Dobbs; Dana M Farmer; Sebnem Kilic; Kenneth Paris; Sofia Grigoriadou; Elaine Coustan-Smith; Vanessa Howard; Dario Campana
Journal:  Annu Rev Immunol       Date:  2009       Impact factor: 28.527
  7 in total
  6 in total

1.  A transcriptional signature accurately identifies Aspergillus Infection across healthy and immunosuppressed states.

Authors:  Julie M Steinbrink; Aimee K Zaas; Marisol Betancourt; Jennifer L Modliszewski; David L Corcoran; Micah T McClain
Journal:  Transl Res       Date:  2020-02-20       Impact factor: 7.012

2.  Autosomal recessive agammaglobulinemia: the third case of Igβ deficiency due to a novel non-sense mutation.

Authors:  Vassilios Lougaris; Massimiliano Vitali; Manuela Baronio; Daniele Moratto; Giacomo Tampella; Augusto Biasini; Raffaele Badolato; Alessandro Plebani
Journal:  J Clin Immunol       Date:  2014-04-11       Impact factor: 8.317

3.  Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis.

Authors:  Hassan Abolhassani; Fatemeh Kiaee; Marzieh Tavakol; Zahra Chavoshzadeh; Seyed Alireza Mahdaviani; Tooba Momen; Reza Yazdani; Gholamreza Azizi; Sima Habibi; 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 Rahimi; Parisa Ashournia; Anahita Razaghian; Arezou Rezaei; Setareh Mamishi; Nima Parvaneh; Nima Rezaei; Lennart Hammarström; Asghar Aghamohammadi
Journal:  J Clin Immunol       Date:  2018-10-09       Impact factor: 8.317

4.  A novel PIK3CD C896T mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing: An indication of primary immunodeficiency.

Authors:  Jing Zou; Xiangqiang Duan; Guiliang Zheng; Zhen Zhao; Shiyue Chen; Pu Dai; Hongliang Zheng
Journal:  J Otol       Date:  2016-06-08

Review 5.  Update on Infections in Primary Antibody Deficiencies.

Authors:  Yesim Yilmaz Demirdag; Sudhir Gupta
Journal:  Front Immunol       Date:  2021-02-11       Impact factor: 7.561

Review 6.  Agammaglobulinemia: from X-linked to Autosomal Forms of Disease.

Authors:  Melissa Cardenas-Morales; Vivian P Hernandez-Trujillo
Journal:  Clin Rev Allergy Immunol       Date:  2021-07-09       Impact factor: 10.817
  6 in total

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