Clinical and Genetic Characteristics of IKZF1 Mutation in Chinese Children With B-Cell Acute Lymphoblastic Leukemia

J Zhang, XJ Xu, L Liu, H Song, H Shen, W Xu… - … in Genetics, 2022 - frontiersin.org
… However, the distribution of IKZF1 mutation in Chinese children with B-cell ALL (B-ALL) has
… the clinical and genetic characteristics of Chinese B-ALL children with IKZF1 mutation in our …

[PDF][PDF] B-cell deficiency: a de novo IKZF1 patient and review of the literature

QY Chen, XC Wang, WJ Wang, QH Zhou… - J Investig Allergol Clin …, 2018 - jiaci.org
… We report the first Chinese patient with a mutated IKZF1 gene studied by WES. The mutant
gene c.500A>G has previously been reported in 3 patients [3]. The similarities between these …

Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency

D Boutboul, HS Kuehn… - … Journal of clinical …, 2018 - Am Soc Clin Investig
… , somatic mutations in IKZF1 have … IKZF1 mutations have been identified in patients with
a B cell immune deficiency mimicking common variable immunodeficiency. These mutations

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

HS Kuehn, CJ Nunes-Santos… - Expert review of clinical …, 2021 - Taylor & Francis
… variants of IKZF1 mutations (haploinsufficiency and dominant negative) clinical phenotypes
… -phenotype correlation and clinical manifestations in patients with IKZF1 mutations. The …

IKZF1 polymorphisms are associated with susceptibility, cytokine levels, and clinical features in systemic lupus erythematosus

L Chen, Q Niu, Z Huang, B Yang, Y Wu, J Zhang - Medicine, 2020 - journals.lww.com
… between IKZF1 polymorphisms and SLE susceptibility, cytokine levels, and clinical characteristics
… [11–13] In this study, we observed that IKZF1 is one of SLE susceptibility genes in the …

Identification of IKZF1 genetic mutations as new molecular subtypes in acute myeloid leukaemia

Y Wang, W Cheng, Y Zhang, Y Zhang… - Clinical and …, 2023 - Wiley Online Library
gene expression patterns following IKZF1 mutations, we then performed bulk RNA-Seq of
IKZF1 G158S, N159S and N159Y mutant … Unsupervised clustering of mutant and WT IKZF1

The clinical impact of IKZF1 mutation in acute myeloid leukemia

X Zhang, A Huang, L Liu, J Qin, C Wang… - … Hematology & Oncology, 2023 - Springer
… the features of IKZF1 MUT AML, we compared the baseline characteristics of the IKZF1 MUT
and IKZF1 … ELN 2017 prognostic stratification predicted the clinical outcome of AML patients …

Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations

A Hoshino, S Okada, K Yoshida, N Nishida… - … of Allergy and Clinical …, 2017 - Elsevier
… in B cell–deficient patients in this study, together with a previous report, provides genetic
evidence for a heterozygous IKZF1 mutation causing dysgammaglobulinemia with or without …

Germline genetic IKZF1 variation and predisposition to childhood acute lymphoblastic leukemia

ML Churchman, M Qian, G Te Kronnie, R Zhang… - Cancer cell, 2018 - cell.com
… Here we report coding germline IKZF1 variation in familial … IKZF1 function and drug
responsiveness of leukemic cells. These results identify IKZF1 as a leukemia predisposition gene, …

Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1

P Sriaroon, Y Chang, B Ujhazi, K Csomos… - Frontiers in …, 2019 - frontiersin.org
… We report a novel IKZF1 variant (p.His195Arg) in a family. This variant is likely to be loss-of-…
immune defect and clinical presentation in patients with IKZF1 mutations remains unknown. …