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A young girl with hypogammaglobulinemia and granulomatous hepatitis caused by a novel mutation in ZBTB24 gene: A case based analysis.

Immunobiology - 1 May 2020

Banday Aaqib Zaffar, Jindal Ankur Kumar, Kaur Anit, Kumar Yashwant, Nameirakpam Johnson, Patra Pratap Kumar, Rawat Amit

Abstract excerpt

BACKGROUND: Immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome(s) are a group (ICF1 to ICF4) of autosomal recessive combined immunodeficiency disorders that may mimic common variable immunodeficiency (CVID) at initial presentation. Unlike CVID, autoimmune manifestations have been reported uncommonly in patients with ICF2. PROCEDURE: Herein we describe a new case of ICF2 with a novel...

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PMID: 32061411
DOI: 10.1016/j.imbio.2020.151912

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A young girl with hypogammaglobulinemia and granulomatous hepatitis caused by a novel mutation in ZBTB24 gene: A case based analysis.PMID 32061411Read ↗

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