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Item: Title: 3.2 Identification of a novel SERPING1 pathogenic variant leading to aberrant splicing Destination: s3_2 Item: Title: 3.3 Identification of a gonosomal mosaicism for the SERPING1 c.890-1G>C mutation in the patient’s mother Destination: s3_3 Item: Title: 4 Discussion Destination: s4 Item: Title: Data availability statement Destination: bmark_-1258588262 Item: Title: Ethics statement Destination: bmark_1370551237 Item: Title: Author contributions Destination: bmark_-1208584890 Item: Title: Funding Destination: bmark_1865464027 Item: Title: Acknowledgments Destination: bmark_-366698314 Item: Title: Conflict of interest Destination: bmark_1089982005 Item: Title: Generative AI statement Destination: bmark_-1453097031 Item: Title: Publisher’s note Destination: bmark_-1256977648 Item: Title: References Destination: bmark_2090415954 ID: 0xff583a4575046443d976401e96b296bb, 0x5db1640f2902c041a12070edf2edcdb3 Filters: FilterPipeline: FlateDecode FilterPipeline: DCTDecode Images: 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Front. Immunol. 16:1550380. doi: 10.3389/fimmu.2025.1550380 Copyright © 2025 Batlle-Masó, Perurena-Prieto, Viñas-Giménez, Aguiló-Cucurull, Fernández-Álvarez, Gil-Serrano, Guilarte and Colobran. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. hereditary angioedema C1 inhibitor deficiency SERPING1 somatic variant gonosomal mosaicism genetic counseling De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency hereditary angioedema; C1 inhibitor deficiency; SERPING1; somatic variant; gonosomal mosaicism; genetic counseling True https://www.frontiersin.org/legal/copyright-statement Pages: Page: Label: 1 Annotations: Annotation: Subtype: Link Rect: 221, 685, 432, 706 Annotation: Subtype: Link Rect: 221, 660, 462, 681 Annotation: Subtype: Link Rect: 221, 635, 494, 656 Annotation: Subtype: Link Rect: 221, 610, 465, 631 Annotation: Subtype: Link Rect: 49, 33, 129, 40 Annotation: Subtype: Link Rect: 500, 33, 545, 40 Annotation: Subtype: Link Rect: 49, 690, 125, 705 Annotation: Subtype: Link Rect: 60, 528, 157, 535 Annotation: Subtype: Link Rect: 60, 508, 148, 515 Annotation: Subtype: Link Rect: 49, 372, 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