Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1
Variant:p.V197Splc
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IKZF1

NM_006060.6:p.V197Splc

Associated Papers

Case Report: A Highly Variable Clinical and Immunological Presentation of IKAROS Deficiency in a Single Family.

Kuijpers TW et al.

Frontiers in Immunology, 2022

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.

Kuehn HS et al.

Blood, 2021

Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study.

Hoshino A et al.

Frontiers in Immunology, 2021

IKZF1 Loss-of-Function Variant Causes Autoimmunity and Severe Familial Antiphospholipid Syndrome.

Dieudonné Y et al.

Journal of Clinical Immunology, 2019

Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency.

Eskandarian Z et al.

Frontiers in Immunology, 2019

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects.

Bogaert DJ et al.

The Journal of Allergy and Clinical Immunology, 2018

Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations.

Hoshino A et al.

The Journal of Allergy and Clinical Immunology, 2017

B-cell Deficiency: A De Novo IKZF1 Patient and Review of the Literature.

Chen QY et al.

Journal of Investigational Allergology & Clinical Immunology, 0

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