Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency 50

Here, we present the findings of an investigation involving two male siblings with juvenile total tooth loss, early-onset chronic leg ulcers, and autoimmune thyroiditis, as well as focal segmental glomerulosclerosis with associated pulmonary emphysema in one and diabetes mellitus in the other. The c...

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Detalles Bibliográficos
Autores principales: Kovács, András L., Kárteszi, Judit, Prohászka, Zoltán, Kalmár, Tibor, Késmárky, Gábor, Koltai, Katalin, Nagy, Zsuzsanna, Sebők, Judit, Vas, Tibor, Molnár, Krisztián, Berki, Tímea, Böröcz, Katalin, Gyömörei, Csaba, Szalma, József, Egyed, Miklós, Horváth, Szabina, Oláh, Péter, Csuka, Dorottya, Németh, Viktória, Gyulai, Rolland
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9477008/
https://www.ncbi.nlm.nih.gov/pubmed/36119109
http://dx.doi.org/10.3389/fimmu.2022.919411

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