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Immunodeficiency Diseases01:25

Immunodeficiency Diseases

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Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
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Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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A heterozygous USB1 variant linked to immunodeficiency.

Alice Valagussa1,2, Nidia Moreno-Corona1, Chantal Lagresle-Peyrou3,4

  • 1Université Paris Cité, Laboratory of Human Lympho-hematopoiesis, Imagine Institute, INSERM UMR 1163, Paris, France.

Journal of Human Immunity
|January 30, 2026
PubMed
Summary

A new genetic variant in the USB1 gene causes poikiloderma with neutropenia, affecting protein interactions and leading to immune deficiencies like hypogammaglobulinemia and low neutrophil counts.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Immunology

Background:

  • Poikiloderma with neutropenia is a genetic disorder with diverse clinical manifestations.
  • The USB1 gene encodes a phosphodiesterase crucial for RNA processing and stability.

Purpose of the Study:

  • To investigate the impact of a novel heterozygous de novo USB1 variant (p.P44L) in a patient with neutropenia and hypogammaglobulinemia.
  • To elucidate the functional consequences of the p.P44L variant on USB1 protein activity and cellular processes.

Main Methods:

  • Identification of a de novo USB1 variant (p.P44L) in a patient.
  • In vitro functional assays to assess U6 RNA processing, protein interactions, and subcellular localization.
  • Assessment of neutrophil differentiation and clonal capacity.
  • Zebrafish model for in vivo analysis of neutrophil and pigmentation defects.

Main Results:

  • The p.P44L variant, affecting a conserved N-terminal proline, did not impair U6 RNA processing but altered protein interactions and reduced nuclear localization.
  • In vitro, the variant did not inhibit neutrophil differentiation but decreased clonal capacity.
  • Zebrafish studies showed reduced neutrophils and pigmentation.

Conclusions:

  • The p.P44L variant expands the known spectrum of USB1-associated genetic disorders.
  • Heterozygous variants in the N-terminal domain of USB1 can significantly impact clinical phenotypes, including immune dysfunction.
  • Hypogammaglobulinemia may be a clinical feature associated with USB1 dysfunction.