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JHI is a Gold Open Access journal that publishes papers that provide novel insights into the physiology and pathology of human immunity through the study of genetic defects and their phenocopies

Newest Articles
Research Letter
Clémence David, Anne Welfringer-Morin et al.
Identification of a heterozygous P2RY8 E323G substitution in a father and son with cutaneous lupus and enhanced type I interferon signaling supports a role for P2RY8 in lupus causation and highlights the overlap between Mendelian disease and complex genetic susceptibility.
Article
Ahmad Rayes, Akshaya Ramachandran et al.
This report outlines the clinical, genetic, and immunologic features of a novel FOXP3 missense variant causing severe, treatment-resistant IPEX in an infant, emphasizing the usefulness of quantifying TSDR-demethylated cells as an early biomarker of IPEX disease activity.
Research Letter
Vincent Fréret, Klervie Loiselet et al.
This report by Fréret et al. describes a child with IPEX due to a FOXP3 mutation, presenting with carotid perivasculitis consistent with TIPIC syndrome on multimodal imaging, who achieved clinical and radiologic remission after corticosteroids. This represents the first pediatric case linking TIPIC and immune dysregulation.
Research Letter
Julian Thalhammer, Bénédicte Bruno et al.
Thalhammer et al. report two siblings with hematopoietic protein 1 (HEM1), also named Nck-associated protein 1-like (NCKAP1L), deficiency and varying clinical phenotype and the first case of successful hematopoietic stem cell transplantation for recurrent infections and EBV-induced hemophagocytic lymphohistiocytosis, showing curative potential.
Article
Adrian Gervais, Francesca Trespidi et al.
In 13 cohorts of individuals with WNV infection, the risk of WNV encephalitis is increased 20 to >>2,000 times by circulating auto-Abs neutralizing type I IFNs, depending on the concentration and combination of type I IFNs neutralized and patient age.
Article
Dan Tomomasa, Akira Nishimura et al.
We investigated tumorigenesis mechanisms through transcriptomic profiling and somatic variant analysis in tumor samples from six patients with XLP1. LPD associated with XLP1 may originate from polyclonal lymphocyte expansion, either in the presence or absence of EBV infection, and subsequently progress to malignancy through somatic variants.
Research Letter
Marie Roelens, Anna-Lena Neehus et al.
Rare variants in CYBB (encoding gp91phox) are responsible for chronic granulomatous disease. We report a patient affected by multiple cerebral abscesses caused by Acanthamoeba sp. and complete gp91phox deficiency. The respiratory burst evaluation is recommended in any child with a deep abscess.
Journal of Human Immunity Cover Image for Volume 2, Issue 2
Current Issue
Volume 2,
Issue 2,
2 March 2026
Reviews & Opinions
Perspective
Jean-Laurent Casanova
In this Perspective, Casanova discusses the 30-year history and future implications of emerging science showing that monogenetic lesions, and autoimmune disorders targeting the same components of host defense, can underlie the same infection. He elucidates the basic biology and public health possibilities of this provocative idea.
Perspective
Blanca García-Solís, Rebeca Pérez de Diego et al.
Garcia-Solis et al. examine genetic testing advances in inborn errors of immunity, highlighting challenges in variant interpretation and the need for standardized approaches. The work emphasizes integrating clinical expertise with genetic research through interdisciplinary collaboration to enable personalized treatment, equitable diagnostic access, and improved outcomes for affected individuals.
Perspective
Etienne Pays
Etienne Pays proposes that the lipid-interacting proteins of the APOL families specifically control cellular membrane dynamics involved in processes linked to immunity, like antigen presentation, inflammation, mitophagy, and apoptosis. Dysfunctions in these activities are responsible for diseases such as kidney disease, liver fibrosis, or increased sensitivity to trypanosome infection.

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JHI is a partnership between the International Alliance for Primary Immunodeficiency Societies (IAPIDS) and Rockefeller University Press (RUP) and is the official journal of IAPIDS and its member societies. Learn more about the origins of JHI.

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