Literature DB >> 21625022

IL7R and RAG1/2 genes mutations/polymorphisms in patients with SCID.

Sepideh Safaei1, Zahra Pourpak, Mostafa Moin, Massoud Houshmand.   

Abstract

SCID disorder is major failure of the immune system, usually genetic. The aim of this study was on mutations detection of RAG1, RAG2, and IL7RG genes in SCID cases. Mutation detection was performed by PCR sequencing. Our results indicated that 13 mutations were found through cases which include 4 mutations in IL7R gene (T661I, I138V, T56A, C57W), 7 mutations in RAG1 (W896X, W204R, M324V, T731I, M1006V, K820R, and R249H), and 2 mutations in RAG2 gene (R229W, ΔT251).

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21625022     DOI： 010.02/ijaai.129132

Source DB:  PubMed          Journal:  Iran J Allergy Asthma Immunol        ISSN： 1735-1502            Impact factor:   1.464


  8 in total

1.  SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.

Authors:  Lucila Akune Barreiros; Jusley Lira Sousa; Christoph Geier; Alexander Leiss-Piller; Marilia Pylles Patto Kanegae; Tábata Takahashi França; Bertrand Boisson; Alessandra Miramontes Lima; Beatriz Tavares Costa-Carvalho; Carolina Sanchez Aranda; Maria Isabel de Moraes-Pinto; Gesmar Rodrigues Silva Segundo; Janaira Fernandes Severo Ferreira; Fabíola Scancetti Tavares; Flávia Alice Timburiba de Medeiros Guimarães; Eliana Cristina Toledo; Ana Carolina da Matta Ain; Iramirton Figueirêdo Moreira; Gustavo Soldatelli; Anete Sevciovic Grumach; Mayra de Barros Dorna; Cristina Worm Weber; Regina Sumiko Watanabe Di Gesu; Vera Maria Dantas; Fátima Rodrigues Fernandes; Troy Robert Torgerson; Hans Dietrich Ochs; Jacinta Bustamante; Jolan Eszter Walter; Antonio Condino-Neto
Journal:  J Clin Immunol       Date:  2022-05-03       Impact factor: 8.542

2.  Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine).

Authors:  Svetlana O Sharapova; Irina E Guryanova; Olga E Pashchenko; Irina V Kondratenko; Larisa V Kostyuchenko; Yulia A Rodina; Tatjana V Varlamova; Anastasiia V Bondarenko; Liudmyla I Chernyshova; Marina N Gyseva; Mikhail V Belevtsev; Nina V Minakovskaya; Olga V Aleinikova
Journal:  J Clin Immunol       Date:  2015-11-23       Impact factor: 8.317

3.  Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

Authors:  Irit Tirosh; Yasuhiro Yamazaki; Francesco Frugoni; Francesca A Ververs; Eric J Allenspach; Yu Zhang; Siobhan Burns; Waleed Al-Herz; Lenora Noroski; Jolan E Walter; Andrew R Gennery; Mirjam van der Burg; Luigi D Notarangelo; Yu Nee Lee
Journal:  J Allergy Clin Immunol       Date:  2018-06-18       Impact factor: 10.793

4.  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

5.  Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.

Authors:  Saul Oswaldo Lugo-Reyes; Nina Pastor; Edith González-Serrano; Marco Antonio Yamazaki-Nakashimada; Selma Scheffler-Mendoza; Laura Berron-Ruiz; Guillermo Wakida; Maria Enriqueta Nuñez-Nuñez; Ana Paola Macias-Robles; Aide Tamara Staines-Boone; Edna Venegas-Montoya; Carmen Alaez-Verson; Carolina Molina-Garay; Luis Leonardo Flores-Lagunes; Karol Carrillo-Sanchez; Julie Niemela; Sergio D Rosenzweig; Paul Gaytan; Jorge A Yañez; Ivan Martinez-Duncker; Luigi D Notarangelo; Sara Espinosa-Padilla; Mario Ernesto Cruz-Munoz
Journal:  J Clin Immunol       Date:  2021-05-05       Impact factor: 8.317

6.  Genetic polymorphisms in IL-7 and IL-7R are correlated with lung cancer risk in the Chinese Han population.

Authors:  Chan Zhang; Pincan Su; Wanlu Chen; Qi Li; Run Dai; YuJing Cheng; Jiangcun Yang
Journal:  Cancer Manag Res       Date:  2019-06-11       Impact factor: 3.989

Review 7.  A CRISPR view of hematopoietic stem cells: Moving innovative bioengineering into the clinic.

Authors:  Atesh K Worthington; E Camilla Forsberg
Journal:  Am J Hematol       Date:  2022-05-25       Impact factor: 13.265

8.  A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

Authors:  Yu Nee Lee; Francesco Frugoni; Kerry Dobbs; Jolan E Walter; Silvia Giliani; Andrew R Gennery; Waleed Al-Herz; Elie Haddad; Francoise LeDeist; Jack H Bleesing; Lauren A Henderson; Sung-Yun Pai; Robert P Nelson; Dalia H El-Ghoneimy; Reem A El-Feky; Shereen M Reda; Elham Hossny; Pere Soler-Palacin; Ramsay L Fuleihan; Niraj C Patel; Michel J Massaad; Raif S Geha; Jennifer M Puck; Paolo Palma; Caterina Cancrini; Karin Chen; Mauno Vihinen; Frederick W Alt; Luigi D Notarangelo
Journal:  J Allergy Clin Immunol       Date:  2013-11-28       Impact factor: 10.793
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.