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Related Experiment Video

Updated: Dec 14, 2025

A Chromatin Immunoprecipitation Assay to Identify Novel NFAT2 Target Genes in Chronic Lymphocytic Leukemia
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Novel NCF2 Mutation Causing Chronic Granulomatous Disease.

Idit Lachover Roth1, Pazit Salamon2, Tal Freund3

  • 1Allergy and Clinical Immunology Unit, Meir Medical Center, Kfar-Saba and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Journal of Clinical Immunology
|July 16, 2020
PubMed
Summary

A novel NCF2 gene mutation causes diverse clinical presentations of chronic granulomatous disease (CGD). This finding expands understanding of CGD

Keywords:
CGDChronic granulomatous diseaseIEINCF2P67PhoxPIDDchildhood interstitial lung diseaseinborn errors of immunityprimary immunodeficiency disorders

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Area of Science:

  • Immunology
  • Genetics

Background:

  • Chronic granulomatous disease (CGD) is a rare primary immunodeficiency.
  • It results from defects in the NADPH oxidase complex, with NCF2 mutations causing autosomal recessive CGD.

Purpose of the Study:

  • To identify and characterize a novel NCF2 mutation.
  • To investigate its association with diverse clinical phenotypes in patients with CGD.

Main Methods:

  • Genetic sequencing of NCF2 gene and cDNA.
  • Dihydrorhodamine 123 (DHR123) assay to assess NADPH oxidase function.
  • Clinical data review of affected patients.

Main Results:

  • A novel c.855G>C NCF2 mutation was identified in three patients.
  • Pathogenicity confirmed by abnormal DHR123 assay and absent p67phox production.
  • Homozygous and heterozygous mutations presented with varied clinical manifestations, including interstitial lung disease, pneumonia, lymphadenitis, skin abscesses, and discoid lupus erythematosus.

Conclusions:

  • A novel pathogenic NCF2 mutation leads to diverse and unusual clinical phenotypes in CGD.
  • This discovery broadens the spectrum of NCF2-associated CGD presentations.
  • Highlights the importance of genetic testing for NCF2 mutations in patients with unexplained immunodeficiency or inflammatory conditions.