Original Research
Published on 18 Aug 2025
Clinical and genetic features of UNC13D deficiency with hypogammaglobulinemia
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1628507
- 105 views
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951 articles
Original Research
Published on 18 Aug 2025
Reliable genetic diagnosis of NCF1 (p47phox)-deficient chronic granulomatous disease using high-throughput sequencing
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1640496
- 210 views
Case Report
Accepted on 15 Aug 2025
Case report: hematopoietic stem cell transplantation in an adult patient with X-linked agammaglobulinemia and severe refractory enteropathy
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1662016
- 167 views
Case Report
Published on 15 Aug 2025
Fatal X-linked agammaglobulinemia complicated by septic shock: a case report and comprehensive review of novel BTK mutations
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1645337
- 407 views
Original Research
Published on 14 Aug 2025
High prevalence of the hotspot complement factor I p.Ile357Met pathogenic variant in Tunisian atypical hemolytic uremic syndrome patients: report of three new cases and review of the literature
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1623432
- 668 views
Original Research
Published on 13 Aug 2025
A Norwegian cohort with STAT1-related disease – further expanding the clinical phenotype
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1620291
- 409 views
Original Research
Accepted on 11 Aug 2025
First Report from the Czech National Registry of Inborn Errors of Immunity (2012-2025) NUMBER OF WORDS: 3764 NUMBER OF TABLES: 9 NUMBER OF FIGURES: 6
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1653685
Case Report
Accepted on 11 Aug 2025
Case Report: X-linked Agammaglobulinemia with Progressive Neurodegeneration from Immunological to Neurological Implications
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1611748
Case Report
Accepted on 11 Aug 2025
Case report: anti-IL-6 autoantibodies in a patient with Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1660161
- 138 views
Correction
Published on 07 Aug 2025
Correction: A survey of diagnosis and therapy of inborn errors of immunity among practice-based physicians and clinic-based pneumologists and hemato-oncologists
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1666329
- 237 views
Original Research
Published on 06 Aug 2025
Clinical and functional characterization of a novel TNFRSF9 variant causing immune dysregulation with predisposition to EBV-driven lymphomagenesis
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1605221
- 467 views
Original Research
Accepted on 04 Aug 2025
Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1638544
- 237 views
Case Report
Published on 31 Jul 2025
Case Report: GATA2 deficiency in two families with novel frameshift variants highlighting phenotypic diversity and need for early diagnosis
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1644552
- 612 views
Brief Research Report
Published on 31 Jul 2025
New insights into Wiskott-Aldrich syndrome: ten novel WAS mutations and their clinical impact in a Brazilian cohort
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1585594
- 765 views
Original Research
Accepted on 30 Jul 2025
Prevalence and Clinical Implications of Major and Minor ANCAs in Tunisian (North African) Patients with Systemic Lupus Erythematosus
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1657670
- 156 views
Case Report
Published on 25 Jul 2025
Case Report: Heterozygous out-of-frame frameshift variant in ELANE without evidence of neutropenia
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1617868
- 936 views