Targeted next-generation sequencing revealed a novel homozygous mutation in the <i>LRBA</i> gene causes severe haemolysis associated with Inborn Errors of Immunity in an Indian family.-Reference-Cited by-同舟云学术

Targeted next-generation sequencing revealed a novel homozygous mutation in the LRBA gene causes severe haemolysis associated with Inborn Errors of Immunity in an Indian family.

Published:2022-04-12 Issue:1 Volume:27 Page:441-448
ISSN:1607-8454
Container-title:Hematology
language:en
Short-container-title:Hematology

Author:

Kedar Prabhakar¹^ORCID,Dongerdiye Rashmi¹,Chandrakala Shanmukhaiah²,Bargir Umair Ahmed³^ORCID,Madkaikar Manisha³^ORCID

Affiliation:

1. Department of Haematogenetics, ICMR- National Institute of Immunohaematology, Parel, Mumbai, India

2. Department of Hematology, King Edward Memorial Hospital, Parel, Mumbai, India

3. Department of Pediatric Immunology and Leukocyte Biology, ICMR- National Institute of Immunohaematology, Parel, Mumbai, India

Funder

Department of Biotechnology, Ministry of Science and Technology, India

Indian Council of Medical Research

Publisher

Informa UK Limited

Subject

Hematology,General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/16078454.2022.2058736

Reference28 articles.

1. Clinical picture and treatment of 2212 patients with common variable immunodeficiency

2. Review: Diagnosing Common Variable Immunodeficiency Disorder in the Era of Genome Sequencing

3. Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

4. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

5. A-kinase anchoring proteins: From protein complexes to physiology and disease

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