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Article

A scan of pleiotropic immune mediated disease genes identifies novel determinants of baseline FVIII inhibitor status in hemophilia A.

Genes and immunity - 1 Jun 2025

Almeida Marcio A, Diego Vincent P, Viel Kevin R, Luu Bernadette W, Haack Karin, Rajalingam Raja, Ameri Afshin, Chitlur Meera, Rydz Natalia, Lillicrap David, Watts Raymond G, Kessler Craig M, Ramsey Christopher, Dinh Long V, Kim Benjamin, Powell Jerry S, Manusov Eron G, Peralta Juan M, Bouls Ruayda, Abraham Shirley M, Shen Yu-Min, Murillo Carlos M, Mead Henry, Lehmann Paul V, Fine Eli J, Escobar Miguel A, Kumar Satish, Konkle Barbara A, Williams-Blangero Sarah, Kasper Carol K, Almasy Laura, Cole Shelley A, Blangero John, Howard Tom E

Abstract excerpt

Hemophilia-A (HA) is the X-linked bleeding disorder caused by heterogeneous factor (F)VIII gene (F8)-mutations and deficiencies in plasma-FVIII-activity that prevent intrinsic-pathway mediated coagulation-amplification. Severe-HA patients (HAPs) require life-long infusions of therapeutic-FVIII-proteins (tFVIIIs) but ~30% develop neutralizing-tFVIII-antibodies called "FVIII-inhibitors (FEIs)". We investigated the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40263602
DOI: 10.1038/s41435-025-00325-7
PMCID: PMC13285979

Genes

F8
B3GNT2
CTLA4

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A scan of pleiotropic immune mediated disease genes identifies novel determinants of baseline FVIII inhibitor status in hemophilia A.PMID 40263602Read ↗

A Scan of Pleiotropic Immune Mediated Disease Genes Identifies Novel Determinants of Baseline FVIII Inhibitor Status in Hemophilia-ASemantic proximity Read ↗

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