Case Report
Published on 28 Feb 2025
Case Report: Hypomorphic Ligase 4 deficiency – a paradigm of immunodysregulation
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1545630
- 2,747 views
- 1 citation
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997 articles
articles
Case Report
Published on 27 Feb 2025
Case report and literature review: clinical manifestations and treatment of human RelA deficiency
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1529654
- 4,836 views
- 4 citations
Original Research
Published on 21 Feb 2025
Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1557632
- 3,714 views
- 1 citation
Editorial
Published on 19 Feb 2025
Editorial: Community series in primary immunodeficiencies worldwide, volume II
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1564959
- 1,297 views
Review
Published on 18 Feb 2025
The genetics of hyper IgE syndromes
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1516068
- 9,802 views
- 10 citations
Original Research
Published on 14 Feb 2025
Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1539848
- 2,311 views
Original Research
Published on 14 Feb 2025
Patient-centered outcomes with subcutaneous immunoglobulin use for infection control in primary and secondary immunodeficiencies: data of a GEIE Spanish Registry
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1532367
- 3,875 views
- 2 citations
Original Research
Published on 12 Feb 2025
CD21low B cells reveal a unique glycosylation pattern with hypersialylation and hyperfucosylation
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1512279
- 3,100 views
Brief Research Report
Published on 06 Feb 2025
De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1550380
- 3,470 views
- 1 citation
Original Research
Published on 05 Feb 2025
Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1492751
- 2,834 views
Case Report
Published on 04 Feb 2025
Haploidentical stem cell transplantation with posttransplant cyclophosphamide in children with Wiskott–Aldrich syndrome: a case report
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1495666
- 3,622 views
- 1 citation
Case Report
Published on 31 Jan 2025
Case report: Novel multi-exon homozygous deletion of ZBTB24 causes immunodeficiency, centromeric instability, and facial anomalies syndrome 2
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1517417
- 2,353 views
- 1 citation
Case Report
Published on 31 Jan 2025
Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2024.1523256
- 2,793 views
- 2 citations
Original Research
Published on 29 Jan 2025
Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2024.1499415
- 2,446 views
Case Report
Published on 28 Jan 2025
Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2024.1507494
- 2,937 views
- 1 citation
Original Research
Published on 28 Jan 2025
Definition of clinical immunology around the globe
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1483391
- 4,046 views
Brief Research Report
Published on 23 Jan 2025
Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1517347
- 2,380 views
- 1 citation
Original Research
Published on 22 Jan 2025
Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1492000
- 2,928 views
- 5 citations
Original Research
Published on 21 Jan 2025
Humoral and cell-mediated immune responses to COVID-19 vaccines up to 6 months post three-dose primary series in adults with inborn errors of immunity and their breakthrough infections
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2024.1501908
- 3,721 views
- 1 citation
Original Research
Published on 21 Jan 2025
Piloting an automated query and scoring system to facilitate APDS patient identification from health systems
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2024.1508780
- 3,365 views
- 4 citations
Original Research
Published on 20 Jan 2025
Infectious outcomes of a standardized subcutaneous immunoglobulin dose reduction strategy in primary immune deficiencies amid global shortage
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2024.1527514
- 2,546 views
- 3 citations
Correction
Published on 14 Jan 2025
Corrigendum: Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2024.1544964
- 1,193 views
Perspective
Published on 13 Jan 2025
Expert insights on Hodgkin’s lymphoma development in an activated PI3K delta syndrome patient undergoing leniolisib treatment
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2024.1517543
- 2,800 views
- 3 citations
Case Report
Published on 08 Jan 2025
Dual in vivo T cell depleted haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide and anti-thymocyte globulin as a third salvage transplant for leukocyte adhesion deficiency with graft failure: a case report
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2024.1475448
- 2,296 views
- 2 citations