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
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905 articles
Articles
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
Review
Published on 18 Feb 2025
The genetics of hyper IgE syndromes
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1516068
- 168 views
Case Report
Accepted on 14 Feb 2025
Case report: A novel IKBKB variant (c.1705G>T) is associated with immune dysregulation and disseminated tuberculosis.
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1541899
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
- 160 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
- 354 views
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
- 383 views
Case Report
Accepted on 06 Feb 2025
Case Report: Hypomorphic Ligase 4 Deficiency -A paradigm of immunodysregulation
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1545630
Mini Review
Accepted on 06 Feb 2025
Patient-reported outcomes with subcutaneous immunoglobulin in secondary immunodeficiency
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1528414
- 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
- 345 views
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
- 355 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
- 898 views
Brief Research Report
Accepted on 31 Jan 2025
Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2025.1510365
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
- 455 views
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
- 475 views
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
- 489 views