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Identifying Novel Mutations in Iranian Patients with LPS-responsive Beige-like Anchor Protein (LRBA) Deficiency.

Immunological investigations - 1 May 2021

Ghaini Mehdi, Arzanian Mohammad Taghi, Shamsian Bibi Shahin, Sadr Saeed, Rohani Pejman, Keramatipour Mohammad, Mesdaghi Mehrnaz, Eskandarzadeh Shabnam, Lo Bernice, Jamee Mahnaz, Chavoshzadeh Zahra

Abstract excerpt

LPS-responsive beige-like anchor protein (LRBA) deficiency is a monogenic primary immunodeficiency characterized by a heterogeneous spectrum of clinical manifestations associated with immune dysregulation. In this study, we reported clinical, immunologic, and genetic evaluation of two Iranian patients from unrelated families, both suffering from recurrent respiratory tract infections, failure to thrive,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 32476511
DOI: 10.1080/08820139.2020.1770784

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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