Article
Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance.
JAMA dermatology - 1 Dec 2021
Vahidnezhad Hassan, Youssefian Leila, Saeidian Amir Hossein, Ziaee Vahid, Mahmoudi Hamidreza, Parvaneh Nima, Ashjaei Bahar, Shahrokh Soroush, Kamyab Hesari Kambiz, Soltani Zangbar Mohammadsadegh, Yousefi Mehdi, Zeinali Sirous, Uitto Jouni
Abstract excerpt
IMPORTANCE: Pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND) is a monogenic autoinflammatory disorder with autosomal dominant inheritance and has been associated with monoallelic p.Ser242Arg and p.Glu244Lys variations in the MEFV gene. This dermatosis shares clinical features and pathogenesis with familial Mediterranean fever, although it is a clinically distinct entity. OBJECTIVE: To...
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