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

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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Bibliographic Details
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
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Immunology
Subjects:
juvenile loss of teeth
chronic leg ulcer
autoimmunity
whole exome sequencing
moesin protein
antiphospholipid syndrome
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2022.919411/full

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https://www.frontiersin.org/articles/10.3389/fimmu.2022.919411/full

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