Primary immunodeficiency disorders articles within Nature Communications

Featured

• Article
  08 December 2023 | Open Access

  IgG and IgM cooperate in coating of intestinal bacteria in IgA deficiency

  IgA protects mucosal barriers by coating microorganisms, yet infection related complications are rare in human IgA deficiency. Authors here show that in humans lacking IgA, IgG assists IgM in coating of most bacterial families, thus contributing to gut mucosal defence.

  • Carsten Eriksen
  • , Janne Marie Moll
  •  & Susanne Brix

• Article
  14 September 2023 | Open Access

  Germinal center output is sustained by HELLS-dependent DNA-methylation-maintenance in B cells

  Loss-of-function mutations in the chromatin remodelling protein HELLS result in humoral immune deficiency. Authors here show in a conditional knockout mouse model that HELLS controls the kinetics of a typical germinal center response by DNA methylation, its absence leading to either the appearance of memory-B cell markers or a metabolic state change typical of plasma cells.

  • Clara Cousu
  • , Eléonore Mulot
  •  & Sébastien Storck

• Article
  01 April 2022 | Open Access

  Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses

  Common variable immunodeficiency (CVID) is the most prevalent primary immunodeficiency. Here the authors perform single-cell omics analyses in CVID-discordant monozygotic twins and show epigenetic and transcriptional alterations associated with activation in memory B cells.

  • Javier Rodríguez-Ubreva
  • , Anna Arutyunyan
  •  & Esteban Ballestar

• Article
  14 December 2020 | Open Access

  Treatment of COVID-19 with remdesivir in the absence of humoral immunity: a case report

  Remdesivir is under evaluation for treatment of COVID-19 in clinical trials. Here, the authors report results of remdesivir treatment in a patient with COVID-19 and the genetic antibody deficiency XLA. They show a temporally correlated clinical and virological response, suggesting that remdesivir can reduce SARS-CoV-2 replication in patients.

  • Matthew S. Buckland
  • , James B. Galloway
  •  & James E. D. Thaventhiran

• Article
  12 August 2020 | Open Access

  Targeted gene correction of human hematopoietic stem cells for the treatment of Wiskott - Aldrich Syndrome

  In recent years, hematopoietic stem cells gene editing has emerged as a promising tool to treat blood disorders. Here the authors develop a CRISPR/Cas9-based genome editing strategy that allows the precise correction of Wiskott-Aldrich Syndrome in vitro and in vivo with high efficiency.

  • Rajeev Rai
  • , Marianna Romito
  •  & Alessia Cavazza

• Article
  25 February 2020 | Open Access

  Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

  FCH domain only 1 (FCHO1) is a key molecule involved in clathrin-mediated endocytosis (CME). Here, the authors report homozygous FCHO1 mutations in individuals with variable T and B cell lymphopenia, which are associated with loss-of-function of FCHO1 and impaired formation of clathrin-coated pits in T cells.

  • Marcin Łyszkiewicz
  • , Natalia Ziętara
  •  & Christoph Klein

• Article
  21 October 2019 | Open Access

  A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

  Roquin-1 is a posttranscriptional regulator that controls the expression of many immune-related genes such as ICOS and TNFA. Here, the authors report a homozygous R688* loss of function mutation in Roquin-1 in a patient with syndromic uncontrolled hyperinflammation associated with immune cell activation and hypercytokinemia.

  • S. J. Tavernier
  • , V. Athanasopoulos
  •  & F. Haerynck

• Article
  30 January 2018 | Open Access

  Gimap5-dependent inactivation of GSK3β is required for CD4⁺ T cell homeostasis and prevention of immune pathology

  Loss of function GIMAP5 mutation is associated with lymphopenia, but how it mediates T cell homeostasis is unclear. Here the authors study Gimap5^−/− mice and a patient with GIMAP5 deficiency to show how this GTPAse negatively regulates GSK3β activity to prevent DNA damage and cell death.

  • Andrew R. Patterson
  • , Mehari Endale
  •  & Kasper Hoebe

• Article
  17 November 2017 | Open Access

  Wiskott-Aldrich syndrome protein regulates autophagy and inflammasome activity in innate immune cells

  Wiskott-Aldrich syndrome protein (WASp) is essential for controlling the cytoskeleton, but its function in innate immunity is unclear. Here the authors show that WASp deficiency is associated with dysregulated septin cage formation, excessive inflammasome activation, elevated immune cell death and reduced bacterial clearance.

  • Pamela P. Lee
  • , Damián Lobato-Márquez
  •  & Adrian J. Thrasher

• Article | 20 April 2015

  Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells

  Common variable immunodeficiency disorder (CVID) is a primary immunodeficiency with autoimmune comorbidity. Here, Li et al. show shared genetic susceptibility with autoimmune diseases, identifying the first non HLA risk locus at CLEC16Ain the largest CVID genetic study to date.

  • Jin Li
  • , Silje F. Jørgensen
  •  & Eva Ellinghaus