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.

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.

Objectives LPS-responsive beige-like anchor protein (LRBA) deficiency abolishes LRBA protein expression due to biallelic mutations in the LRBA gene that lead to autoimmune manifestations, inflammatory bowel disease, hypogammaglobulinemia in early stages, and variable clinical manifestations.Material...

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Bibliographic Details
Main Authors: Prabhakar Kedar, Rashmi Dongerdiye, Shanmukhaiah Chandrakala, Umair Ahmed Bargir, Manisha Madkaikar
Format: Article
Language:English
Published: Taylor & Francis Group 2022-12-01
Series:Hematology
Subjects:
Autoimmune hemolytic anemia
hypogammaglobulinaemia
LRBA deficiency
next generation sequencing
Online Access:https://www.tandfonline.com/doi/10.1080/16078454.2022.2058736

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