Article
Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency 50.
Frontiers in immunology - 1 Jan 2022
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
Abstract excerpt
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 clinical picture and lupus anticoagulant, cryoglobulin, and cold agglutinin positivity suggested the diagnosis of...
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