Clinical and immunological spectrum of MHC class I deficiency: insights from a long-term cohort with two novel mutations

BackgroundMajor histocompatibility complex (MHC) Class I deficiency is a rare form of primary immunodeficiency that typically presents with recurrent sinopulmonary infections, bronchiectasis, and granulomatous skin lesions during late childhood or adolescence.MethodsThis retrospective study describe...

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Autores principales:	Sule Haskologlu, Aydan Ikinciogullari, Candan Islamoglu, Sevgi Kostel Bal, Deniz Bayrakoglu, Serife Erdem, Zeynep Ceren Karahan, Omur Ardeniz, Caner Aytekin, Aylin Heper, Serdar Ceylaner, Figen Dogu
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Frontiers Media S.A. 2025-10-01
Colección:	Frontiers in Immunology
Materias:	MHC class I deficiency granulomatous skin lesions uveitis anti-rubella IgM positivity follow-up
Acceso en línea:	https://www.frontiersin.org/articles/10.3389/fimmu.2025.1675097/full
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