ArticleFrontiers in immunology2025
Case Report: Novel variants in the
Article in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Authors and funding
8 authors.
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Abstract
Background: Primary immunodeficiencies (PIDs) comprise a heterogeneous group of disorders characterized by defects in the immune system, predisposing patients to recurrent and severe infections. Type 68 immunodeficiency, caused by biallelic pathogenic variants in Case presentation: We report a 3-month-old male patient admitted with multiple SBIs, including left-sided abscessing pyelonephritis, pyogenic liver abscess, and septic pneumonia complicated by tension pneumothorax. Initial immunological screening revealed normal leukocyte counts, immunoglobulin levels, lymphocyte subpopulations, and TREC (T-cell receptor excision circle)/KREC (kappa-deleting recombination excision circles) copy numbers. Congenital urinary tract anomalies were excluded. Despite clinical improvement, the patient subsequently developed a cold abscess of the cervical lymph node due to Conclusion: This report expands the genetic spectrum of immunodeficiency 68 by identifying novel
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