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...
Main Authors: | András L. Kovács, Judit Kárteszi, Zoltán Prohászka, Tibor Kalmár, Gábor Késmárky, Katalin Koltai, Zsuzsanna Nagy, Judit Sebők, Tibor Vas, Krisztián Molnár, Tímea Berki, Katalin Böröcz, Csaba Gyömörei, József Szalma, Miklós Egyed, Szabina Horváth, Péter Oláh, Dorottya Csuka, Viktória Németh, Rolland Gyulai |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2022-09-01
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Series: | Frontiers in Immunology |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2022.919411/full |
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