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Acute necrotizing encephalopathy associated with COVID-19 in a pediatric patient and a systematic reviewANE associated with COVID-19: Case and review

Kanako Takeuchi; Yuichi Tateishi; Kosuke Ashihara dkk.

Journal of Human Immunity, Vol. 2 No. 2 · 2026 · Inggris · DOAJ Scopus

Hemorrhage detected on imaging may predict poor outcomes in acute necrotizing encephalopathy associated with COVID-19. RANBP2 mutations have been identified in some cases, suggesting a genetic contribution to disease susceptibility and highlighting the need for further research.

Managing non-SCID T cell lymphopenia after TREC-based newborn screeningNon-SCID T cell lymphopenia after TREC-based NBS

Annelotte J. Duintjer; Robbert G.M. Bredius; J. Merlijn van den Berg dkk.

Journal of Human Immunity, Vol. 2 No. 2 · 2026 · Inggris · DOAJ Scopus

TREC-based NBS detects many secondary findings and additional causes for T cell lymphopenia other than SCID. The clinical follow-up of these newborns poses a new challenge for pediatric immunologists. We present clinical follow-up data of 6.5 years of NBS for SCID, underscoring the importance of…

Polyclonal evolution of lymphoproliferative disorders in XLP1Polyclonal evolution of LPDs in XLP1

Dan Tomomasa; Akira Nishimura; Kenichi Yoshida dkk.

Journal of Human Immunity, Vol. 2 No. 3 · 2026 · Inggris · DOAJ Scopus

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…

Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial diseaseComplete and partial forms of MCTS1 deficiency

Qinhua Zhou; Ivan Bagarić; Fabian Komma dkk.

Journal of Human Immunity, Vol. 2 No. 2 · 2026 · Inggris · DOAJ Scopus

X-linked MCTS1 deficiency causes susceptibility to mycobacterial disease. Four new patients carried three previously undescribed truncating or loss-of-expression variants, presenting with BCG disease or M. abscessus infection. Functional testing showed complete or partial loss of MCTS1 activity…

Reply to “The early history of the ESID registry”Reply to “The early history of the ESID registry”

Markus G. Seidel

Journal of Human Immunity, Vol. 2 No. 2 · 2026 · Inggris · DOAJ Scopus

The early history of the ESID registryESID-R history

Roberto Paganelli

Journal of Human Immunity, Vol. 2 No. 2 · 2026 · Inggris · DOAJ Scopus

The history of the ESID registry is described with the help of original documents of the precursor EGID going back to 1994.

Expanding the scope of human immunology in the Journal of Human ImmunityExpanding the scope of JHI

Petter Brodin; JHI associate and consulting editors; JHI society editors dkk.

Journal of Human Immunity, Vol. 2 No. 2 · 2026 · Inggris · DOAJ Scopus

A broader scope for the Journal of Human Immunity.

Human ISG15 deficiency unveils impaired healing of ulcerations via type I interferon–mediated fibrosisIFN-I effect on ISG15-deficient chronic wounds

Christos Sazeides; Lorenzo Cuollo; Ikjot Sidhu dkk.

Journal of Human Immunity, Vol. 2 No. 3 · 2026 · Inggris · DOAJ Scopus

Human ISG15 deficiency is a monogenic syndrome that poises individuals to a proapoptotic and profibrotic state that can lead to lung and skin damage with scarring and impaired function via chronic inflammation.

Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants in DCLRE1CRadiosensitivity and DNA repair in patient T cells

Anna Lyytikäinen; Yasaman Shamshirgaran; Hedvig Hjerpe dkk.

Journal of Human Immunity, Vol. 2 No. 3 · 2026 · Inggris · DOAJ Scopus

Lyytikäinen et al. report two novel assays to characterize T cell function in two patients with DCLRE1C variants diagnosed with leaky SCID. The cell division assay is used to quantify radiosensitivity in patient T cells, and the DNA double-strand break repair assay is used to measure repair defects.

Mosaic TLR8 gain-of-function in an elderly female treated with JAK inhibitor and adjunctive therapyMosaic TLR8 gain-of-function in an elderly female

Jenny A. Patel; Nermina Saucier; Hwi M. Gil dkk.

Journal of Human Immunity, Vol. 2 No. 6 · 2026 · Inggris · DOAJ Scopus

Patel et al. describe an elderly woman with severe chronic neutropenia caused by mosaic TLR8 gain-of-function. The report broadens a primarily pediatric, male disease spectrum and highlights somatic mosaicism as an important diagnostic consideration in adults with unexplained cytopenia and immune…

A fatal case of Aspergillus endocarditis in a pediatric patient with STING-associated vasculopathyAspergillus endocarditis and SAVI

Ambre Dethier; Fanny Bajolle; Paul Bastard dkk.

Journal of Human Immunity, Vol. 2 No. 6 · 2026 · Inggris · DOAJ Scopus

Dethier et al. describe a young girl with SAVI on prolonged JAK inhibitors who developed fatal Aspergillus endocarditis. This report illustrates the major therapeutic challenges in STING1 gain-of-function disorders due to their intrinsic immunological abnormalities and highlights the need for more…

Antibody deficiency in myotonic dystrophy type 1: A differential diagnosis below the radarAntibody deficiency in myotonic dystrophy type 1

Edoardo Galli; Christoph T. Berger; Thomas Daikeler dkk.

Journal of Human Immunity, Vol. 2 No. 6 · 2026 · Inggris · DOAJ Scopus

Galli, Recher et al. describe two patients with hypogammaglobulinemia associated with myotonic dystrophy type 1 (DM1), a rare and underdiagnosed monogenic neuromuscular disorder. The authors present clinical and immunophenotypic clues to aid clinical immunologists in making a correct diagnosis…

Life-threatening hepatic complications in children with ADA-SCIDLife-threatening hepatic complications in children with ADA-SCID

Ridhima Aggarwal; Alison Mansfield; Jinhua Xu-Bayford dkk.

Journal of Human Immunity, Vol. 2 No. 6 · 2026 · Inggris · DOAJ Scopus

We report two cases of ADA-SCID complicated by severe hepatic manifestations, including hepatoblastoma and infantile hepatic hemangiomatosis. These cases highlight the challenges of multidisciplinary management and the need to modify definitive corrective therapies, including gene therapy and…

Management change following NGS diagnosis of inborn errors of immunity: The Australasian experienceManagement change post NGS diagnosis of IEI in Australasia

Shruti Swamy; Bella Shadur; Hannah Hu dkk.

Journal of Human Immunity, Vol. 2 No. 6 · 2026 · Inggris · DOAJ Scopus

Swamy et al. describe an Australian/New Zealand cohort where identification of monogenic inborn errors of immunity through next-generation sequencing resulted in management change in 84% of cases, including guiding hematopoietic stem cell transplants and initiating targeted treatment. Molecular…

Skin biopsy in adult-onset Still’s disease: A specific, rapid, and widely available diagnostic testAOSD skin biopsy

Derrick H.Y. Chong; Caroline Spaner; Ibrahim Elsharawi dkk.

Journal of Human Immunity, Vol. 2 No. 6 · 2026 · Inggris · DOAJ Scopus

AOSD is challenging to diagnose. Chong et al. examine the clinical utility of skin biopsy, an inexpensive and widely available test, in 16 patients with AOSD. They demonstrate that dyskeratotic keratinocytes in the superficial layers are useful for diagnosing AOSD.

Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyondPhagocyte respiratory burst defects

Anna-Lena Neehus; Vijay G. Sankaran; Jean-Laurent Casanova dkk.

Journal of Human Immunity, Vol. 2 No. 6 · 2026 · Inggris · DOAJ Scopus

This review covers the human genetic defects affecting the phagocytic respiratory burst, highlighting the dichotomy between defects of the core NADPH oxidase and of upstream regulators, and explores how these direct and indirect disruptions underlie infection, autoinflammation, and autoimmunity.

C5 inhibition restores B cell homeostasis and humoral immunity in CHAPLE disease patientsC5 inhibition restores B cell homeostasis in CHAPLE disease

Azzeddine Tahiat; Reda Belbouab; Abdelghani Yagoubi dkk.

Journal of Human Immunity, Vol. 2 No. 4 · 2026 · Inggris · DOAJ Scopus

CD55 deficiency drives complement hyperactivation, severe gastrointestinal pathology, and disrupted B cell homeostasis. Our findings show that complement inhibition in CHAPLE disease restores serum immunoglobulin levels, re-establishes a normal B cell profile, and enables effective humoral…

Large vessel vasculopathy: An underrecognized complication in Wiskott–Aldrich syndromeWAS and vasculopathy

Deepti Suri; Pallavi L. Nadig; Dev Desai dkk.

Journal of Human Immunity, Vol. 2 No. 4 · 2026 · Inggris · DOAJ Scopus

Suri et al. from PGIMER, Chandigarh, India, report large vessel vasculopathy as a rare, life-threatening, and underrecognized complication of Wiskott–Aldrich syndrome, often mimicking Takayasu arteritis. They implicate immune dysregulation, endothelial injury, and viral triggers, emphasizing early…

Rebooting immunity in congenital athymia: Factors impacting reconstitution with thymus implantationFactors impacting reconstitution with thymus implantation

Samantha Cresoe-Ortiz; Guglielmo Venturi; Elizabeth A. McCarthy dkk.

Journal of Human Immunity, Vol. 2 No. 4 · 2026 · Inggris · DOAJ Scopus

Allogeneic processed thymus tissue-agdc (RETHYMIC) is approved therapy for treatment of congenital athymia. Study outcomes include changes in T lymphocyte subsets and T cell function. Immune reconstitution was not associated with T cell function, immune suppression, or HLA matching. Younger age at…

Australasian Society of Clinical Immunology and Allergy consensus statement on IEI molecular diagnosisASCIA consensus statement on IEI molecular diagnosis

Tatiane Yanes; Theresa Cole; Alisa Kane dkk.

Journal of Human Immunity, Vol. 2 No. 5 · 2026 · Inggris · DOAJ Scopus

Yanes et al. presents evidence-based guidelines from the Australasian Society of Clinical Immunology and Allergy to support clinicians in selecting patients with suspected inborn errors of immunity for genomic testing. The work provides practical recommendations to improve clinical decision-making…