Article
Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency.
Journal of clinical immunology - 1 Apr 2022
Sefer Asena Pinar, Abolhassani Hassan, Ober Franziska, Kayaoglu Basak, Bilgic Eltan Sevgi, Kara Altan, Erman Baran, Surucu Yilmaz Naz, Aydogmus Cigdem, Aydemir Sezin, Charbonnier Louis-Marie, Kolukisa Burcu, Azizi Gholamreza, Delavari Samaneh, Momen Tooba, Aliyeva Simuzar, Kendir Demirkol Yasemin, Tekin Saban, Kiykim Ayca, Baser Omer Faruk, Cokugras Haluk, Gursel Mayda, Karakoc-Aydiner Elif, Ozen Ahmet, Krappmann Daniel, Chatila Talal A, Rezaei Nima, Baris Safa
Abstract excerpt
PURPOSE: MALT1 deficiency is a combined immune deficiency characterized by recurrent infections, eczema, chronic diarrhea, and failure to thrive. Clinical and immunological characterizations of the disease have not been previously reported in large cohorts. We sought to determine the clinical, immunological, genetic features, and the natural history of MALT-1 deficiency. METHODS: The clinical findings and...
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