A homozygous loss-of-function C1S mutation is associated with Kikuchi-Fujimoto disease

Bibliographische Detailangaben
Veröffentlicht in:	Clinical immunology (Orlando, Fla.). - 1999. - 252(2023) vom: 25. Juli, Seite 109646
1. Verfasser:	Alshekaili, Jalila (VerfasserIn)
Weitere Verfasser:	Nasr, Iman, Al-Rawahi, Mohammed, Ansari, Zainab, Al Rahbi, Nasser, Al Balushi, Hamed, Al-Zadjali, Shoaib, Al Kindi, Mahmood, Al-Maawali, Almundher, Cook, Matthew C
Format:	Online-Aufsatz
Sprache:	English
Veröffentlicht:	2023
Zugriff auf das übergeordnete Werk:	Clinical immunology (Orlando, Fla.)
Schlagworte:	Case Reports Journal Article Research Support, Non-U.S. Gov't C1S Complement Kikuchi-Fujimoto Lupus Complement C1s EC 3.4.21.42

Beschreibung
Zusammenfassung:	Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved. BACKGROUND: Kikuchi-Fujimoto disease (KFD) is a self-limited inflammatory disease of unknown pathogenesis. Familial cases have been described and defects in classical complement components C1q and C4 have been identified in some patients MATERIAL AND METHODS: We describe genetic and immune investigations of a 16 years old Omani male, a product of consanguineous marriage, who presented with typical clinical and histological features of KFD RESULTS: We identified a novel homozygous single base deletion in C1S (c.330del; p. Phe110LeufsTer23) resulting in a defect in the classical complement pathway. The patient was negative for all serological markers of SLE. In contrast, two female siblings (also homozygous for the C1S mutation), one has autoimmune thyroid disease (Hashimoto thyroiditis) and a positive ANA and the other sibling has serology consistent with SLE CONCLUSION: We report the first association between C1s deficiency and KFD
Beschreibung:	Date Completed 22.06.2023 Date Revised 22.06.2023 published: Print-Electronic Citation Status MEDLINE
ISSN:	1521-7035
DOI:	10.1016/j.clim.2023.109646