Literature DB >> 33551037

The New "Wholly Trinity" in the Diagnosis and Management of Inborn Errors of Immunity.

Roshini S Abraham1, Manish J Butte2.   

Abstract

The field of immunology has a rich and diverse history, and the study of inborn errors of immunity (IEIs) represents both the "cake" and the "icing on top of the cake," as it has enabled significant advances in our understanding of the human immune system. This explosion of knowledge has been facilitated by a unique partnership, a triumvirate formed by the physician who gathers detailed immunological and clinical phenotypic information from, and shares results with, the patient; the laboratory scientist/immunologist who performs diagnostic testing, as well as advanced functional correlative studies; and the genomics scientist/genetic counselor, who conducts and interprets varied genetic analyses, all of which are essential for dissecting constitutional genetic disorders. Although the basic principles of clinical care have not changed in recent years, the practice of clinical immunology has changed to reflect the prodigious advances in diagnostics, genomics, and therapeutics. An "omic/tics"-centric approach to IEI reflects the tremendous strides made in the field in the new millennium with recognition of new disorders, characterization of the molecular underpinnings, and development and implementation of personalized treatment strategies. This review brings renewed attention to bear on the indispensable "trinity" of phenotypic, genomic, and immunological analyses in the diagnosis, management, and treatment of IEIs.
Copyright © 2020 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Clinical; Diagnostic immunology; Flow cytometry; Genomic analysis; Immune dysregulatory disorders; Inborn errors of immunity; Laboratory; Next-generation sequencing; Primary immunodeficiencies

Year:  2021        PMID: 33551037     DOI: 10.1016/j.jaip.2020.11.044

Source DB:  PubMed          Journal:  J Allergy Clin Immunol Pract


  2 in total

Review 1.  Future of Therapy for Inborn Errors of Immunity.

Authors:  Elena Perez
Journal:  Clin Rev Allergy Immunol       Date:  2022-01-12       Impact factor: 10.817

2.  Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Authors:  Koon-Wing Chan; Chung-Yin Wong; Daniel Leung; Xingtian Yang; Susanna F S Fok; Priscilla H S Mak; Lei Yao; Wen Ma; Huawei Mao; Xiaodong Zhao; Weiling Liang; Surjit Singh; Mohamed-Ridha Barbouche; Jian-Xin He; Li-Ping Jiang; Woei-Kang Liew; Minh Huong Thi Le; Dina Muktiarti; Fatima Johanna Santos-Ocampo; Reda Djidjik; Brahim Belaid; Intan Hakimah Ismail; Amir Hamzah Abdul Latiff; Way Seah Lee; Tong-Xin Chen; Jinrong Liu; Runming Jin; Xiaochuan Wang; Yin Hsiu Chien; Hsin-Hui Yu; Dinesh Raj; Revathi Raj; Jenifer Vaughan; Michael Urban; Sylvia van den Berg; Brian Eley; Anselm Chi-Wai Lee; Mas Suhaila Isa; Elizabeth Y Ang; Bee Wah Lee; Allen Eng Juh Yeoh; Lynette P Shek; Nguyen Ngoc Quynh Le; Van Anh Thi Nguyen; Anh Phan Nguyen Lien; Regina D Capulong; Joanne Michelle Mallillin; Jose Carlo Miguel M Villanueva; Karol Anne B Camonayan; Michelle De Vera; Roxanne J Casis-Hao; Rommel Crisenio M Lobo; Ruby Foronda; Vicky Wee Eng Binas; Soraya Boushaki; Nadia Kechout; Gun Phongsamart; Siriporn Wongwaree; Chamnanrua Jiratchaya; Mongkol Lao-Araya; Muthita Trakultivakorn; Narissara Suratannon; Orathai Jirapongsananuruk; Teerapol Chantveerawong; Wasu Kamchaisatian; Lee Lee Chan; Mia Tuang Koh; Ke Juin Wong; Siew Moy Fong; Meow-Keong Thong; Zarina Abdul Latiff; Lokman Mohd Noh; Rajiva de Silva; Zineb Jouhadi; Khulood Al-Saad; Pandiarajan Vignesh; Ankur Kumar Jindal; Amit Rawat; Anju Gupta; Deepti Suri; Jing Yang; Elaine Yuen-Ling Au; Janette Siu-Yin Kwok; Siu-Yuen Chan; Wayland Yuk-Fun Hui; Gilbert T Chua; Jaime Rosa Duque; Kai-Ning Cheong; Patrick Chun Yin Chong; Marco Hok Kung Ho; Tsz-Leung Lee; Wilfred Hing-Sang Wong; Wanling Yang; Pamela P Lee; Wenwei Tu; Xi-Qiang Yang; Yu Lung Lau
Journal:  Front Immunol       Date:  2022-07-08       Impact factor: 8.786

  2 in total

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