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Article

Germline IKZF1 mutations and their impact on immunity: IKAROS-associated diseases and pathophysiology.

Expert review of clinical immunology - 1 Apr 2021

Kuehn Hye Sun, Nunes-Santos Cristiane J, Rosenzweig Sergio D

Abstract excerpt

Introduction: The transcription factor IKAROS and IKAROS family members are critical for the development of lymphocyte and other blood cell lineages. Germline heterozygous IKZF1 mutations have been described in primary immunodeficiency as well as in human hematologic malignancies, affecting both B and T cells. Depending on the allelic variants of IKZF1 mutations (haploinsufficiency and dominant negative) clinical...

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Identifiers

PMID: 33691560
DOI: 10.1080/1744666X.2021.1901582
PMCID: PMC8091572

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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