Diagnostic Certainty in Registry-Based Estimates of Innate and Intrinsic Immunity Defects
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Abstract
We read with interest the study by Refaat et al describing defects of innate and intrinsic immunity in the Moroccan inborn errors of immunity (IEI) registry [1]. The cohort is particularly valuable because these disorders may remain unrecognized when routine immunological testing is unrevealing. We believe, however, that clarification of diagnostic certainty would strengthen interpretation of the reported frequency and genetic spectrum.
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References
1. Refaat M, Oujane C, Errami A, Aadam Z, Moundir A, Baghad B, Zaidi S, Kholaiq H, El Kettani A, Benhsaien I, Ailal F, Bourhanbour AD, El Bakkouri J, Bousfiha AA. Defects in Innate and Intrinsic Immunity in Morocco: A Retrospective Analysis of the Genetic Landscape and Clinical Correlations. Pathog Immun. 2025;10(2):243–55. doi: 10.20411/pai.v10i2.845. PubMed PMID: 41209815; PMCID: PMC12594312.
DOI: https://doi.org/10.20411/pai.v10i2.8452. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24. doi: 10.1038/gim.2015.30. PubMed PMID: 25741868; PMCID: PMC4544753.
DOI: https://doi.org/10.1038/gim.2015.303. Zhang W, Chen X, Gao G, Xing S, Zhou L, Tang X, Zhao X, An Y. Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in Stat1: A Systematic Review. Front Immunol. 2021;12:654406. doi: 10.3389/fimmu.2021.654406. PubMed PMID: 33777053; PMCID: PMC7991083.
DOI: https://doi.org/10.3389/fimmu.2021.6544064. Asano T, Noma K, Mizoguchi Y, Karakawa S, Okada S. Human Stat1 Gain of Function with Chronic Mucocutaneous Candidiasis: A Comprehensive Review for Strengthening the Connection between Bedside Observations and Laboratory Research. Immunol Rev. 2024;322(1):81–97. doi: 10.1111/imr.13300. PubMed PMID: 38084635.
DOI: https://doi.org/10.1111/imr.133005. Poli MC, Aksentijevich I, Bousfiha AA, Cunningham-Rundles C, Hambleton S, Klein C, Morio T, Picard C, Puel A, Rezaei N, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I, Tangye SG. Human Inborn Errors of Immunity: 2024 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Hum Immun. 2025;1(1):e20250003. doi: 10.70962/jhi.20250003. PubMed PMID: 41608114; PMCID: PMC12829761.
DOI: https://doi.org/10.70962/jhi.20250003