Literature DB >> 26993986

Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.

Mingyan Fang1,2, Hassan Abolhassani1,3, Che Kang Lim1,4, Jianguo Zhang2, Lennart Hammarström5.   

Abstract

Primary immunodeficiency diseases (PIDs) comprise a group of highly heterogeneous immune system diseases and around 300 forms of PID have been described to date. Next Generation Sequencing (NGS) has recently become an increasingly used approach for gene identification and molecular diagnosis of human diseases. Herein we summarize the practical considerations for the interpretation of NGS data and the techniques for searching disease-related PID genes, and suggest future directions for research in this field.

Entities:  

Keywords:  Primary immunodeficiency (PIDs); candidate gene screening; next generation sequencing

Mesh：

Year:  2016        PMID： 26993986     DOI： 10.1007/s10875-016-0260-y

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


  44 in total

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2.  Digenic mutations in severe congenital neutropenia.

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Journal:  Haematologica       Date:  2010-03-10       Impact factor: 9.941

3.  Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.

Authors:  Hui Yang; Peter N Robinson; Kai Wang
Journal:  Nat Methods       Date:  2015-07-20       Impact factor: 28.547

4.  Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.

Authors:  E Holinski-Feder; M Weiss; O Brandau; K B Jedele; B Nore; C M Bäckesjö; M Vihinen; S R Hubbard; B H Belohradsky; C I Smith; A Meindl
Journal:  Pediatrics       Date:  1998-02       Impact factor: 7.124

5.  Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase.

Authors:  Jouni Väliaho; Imrul Faisal; Csaba Ortutay; C I Edvard Smith; Mauno Vihinen
Journal:  Hum Mutat       Date:  2015-04-27       Impact factor: 4.878

6.  Phen-Gen: combining phenotype and genotype to analyze rare disorders.

Authors:  Asif Javed; Saloni Agrawal; Pauline C Ng
Journal:  Nat Methods       Date:  2014-08-03       Impact factor: 28.547

7.  Incidence and temporal trends of primary immunodeficiency: a population-based cohort study.

Authors:  Avni Y Joshi; Vivek N Iyer; John B Hagan; Jennifer L St Sauver; Thomas G Boyce
Journal:  Mayo Clin Proc       Date:  2009       Impact factor: 7.616

8.  Primary immunodeficiency in south China: clinical features and a genetic subanalysis of 138 children.

Authors:  H Zeng; Y Tao; X Chen; P Zeng; B Wang; R Wei; C Yao; Y Xie; F Li; Y Tang; Y Cui; G Sun
Journal:  J Investig Allergol Clin Immunol       Date:  2013       Impact factor: 4.333

9.  Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

Authors:  Amélie Bonnefond; Emmanuelle Durand; Olivier Sand; Franck De Graeve; Sophie Gallina; Kanetee Busiah; Stéphane Lobbens; Albane Simon; Christine Bellanné-Chantelot; Louis Létourneau; Raphael Scharfmann; Jérôme Delplanque; Robert Sladek; Michel Polak; Martine Vaxillaire; Philippe Froguel
Journal:  PLoS One       Date:  2010-10-26       Impact factor: 3.240

10.  Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies.

Authors:  Jean-Laurent Casanova; Mary Ellen Conley; Stephen J Seligman; Laurent Abel; Luigi D Notarangelo
Journal:  J Exp Med       Date:  2014-10-13       Impact factor: 14.307
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  24 in total

1.  Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis.

Authors:  Mingyan Fang; Hassan Abolhassani; Qiang Pan-Hammarström; Erik Sandholm; Xiao Liu; Lennart Hammarström
Journal:  J Clin Immunol       Date:  2019-02-12       Impact factor: 8.317

2.  Ins and Outs of Antibodies.

Authors:  Sudhir Gupta
Journal:  J Clin Immunol       Date:  2016-05-12       Impact factor: 8.317

3.  A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey.

Authors:  Sinem Firtina; Yuk Yin Ng; Ozden Hatirnaz Ng; Serdar Nepesov; Osman Yesilbas; Meltem Kilercik; Nihan Burtecene; Suzan Cinar; Yildiz Camcioglu; Ugur Ozbek; Muge Sayitoglu
Journal:  Immunogenetics       Date:  2017-06-09       Impact factor: 2.846

4.  Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders.

Authors:  Mikhail M Kostik; Evgeny N Suspitsin; Marina N Guseva; Anastasia S Levina; Anastasia Y Kazantseva; Anna P Sokolenko; Evgeny N Imyanitov
Journal:  Rheumatol Int       Date:  2018-03-02       Impact factor: 2.631

5.  Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency.

Authors:  Asena Pinar Sefer; Hassan Abolhassani; Franziska Ober; Basak Kayaoglu; Sevgi Bilgic Eltan; Altan Kara; Baran Erman; Naz Surucu Yilmaz; Cigdem Aydogmus; Sezin Aydemir; Louis-Marie Charbonnier; Burcu Kolukisa; Gholamreza Azizi; Samaneh Delavari; Tooba Momen; Simuzar Aliyeva; Yasemin Kendir Demirkol; Saban Tekin; Ayca Kiykim; Omer Faruk Baser; Haluk Cokugras; Mayda Gursel; Elif Karakoc-Aydiner; Ahmet Ozen; Daniel Krappmann; Talal A Chatila; Nima Rezaei; Safa Baris
Journal:  J Clin Immunol       Date:  2022-01-26       Impact factor: 8.542

6.  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

7.  Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency.

Authors:  Hassan Abolhassani; Asghar Aghamohammadi; Mingyan Fang; Nima Rezaei; Chongyi Jiang; Xiao Liu; Qiang Pan-Hammarström; Lennart Hammarström
Journal:  Genet Med       Date:  2018-06-19       Impact factor: 8.822

Review 8.  Exome and genome sequencing for inborn errors of immunity.

Authors:  Isabelle Meyts; Barbara Bosch; Alexandre Bolze; Bertrand Boisson; Yuval Itan; Aziz Belkadi; Vincent Pedergnana; Leen Moens; Capucine Picard; Aurélie Cobat; Xavier Bossuyt; Laurent Abel; Jean-Laurent Casanova
Journal:  J Allergy Clin Immunol       Date:  2016-10       Impact factor: 10.793

9.  Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.

Authors:  Michela Barbaro; Annika Ohlsson; Stephan Borte; Susanne Jonsson; Rolf H Zetterström; Jovanka King; Jacek Winiarski; Ulrika von Döbeln; Lennart Hammarström
Journal:  J Clin Immunol       Date:  2016-11-21       Impact factor: 8.317

Review 10.  Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.

Authors:  Emily S J Edwards; Julian J Bosco; Samar Ojaimi; Robyn E O'Hehir; Menno C van Zelm
Journal:  Cell Mol Immunol       Date:  2020-08-17       Impact factor: 11.530
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