Scopus
YÖKSİS Eşleşti
Coexistence of familial mediterranean fever and hyperimmunoglobulinemia D syndrome in a child
Journal of Clinical and Analytical Medicine · Ocak 2015
YÖKSİS Kayıtları
Coexistence of Familial Mediterranean Fever and Hyperimmunoglobulinemia D Syndrome in a Child
Journal of Clinical and Analytical Medicine · 2015 scopus,emerging sources citation index
PROFESÖR RESUL YILMAZ →
Makale Bilgileri
DergiJournal of Clinical and Analytical Medicine
Yayın TarihiOcak 2015
Cilt / Sayfa6 · 120-122
Scopus ID2-s2.0-84928576418
Özet
Hereditary periodic fever syndromes are Mendelian inherited single gene diseases which are also known as hereditary autoinflammatory syndromes, are character-ized by recurrent attacks of fever and inflammation. Familial Mediterranean Fever and Hyperimmunoglobulinemia D syndrome are prototypes and are inherited au-tosomal recessively. The diagnosis is based on clinical course, family history and is confirmed with genetic mutation analysis. We describe a 5- year-old boy who had recurrent attacks of fever, skin rash, and cervical lymphadenopathy since he was 2 years old. His genetic analysis revealed homozygous M694V and V377I for MEFV and MVK gene respectively. Due to our knowledge, this is the first report of a patient who has both HIDS and FMF clinical and genetic features.
Yazarlar (3)
1
Resul Yilmaz
2
Taner Sezer
3
Haluk Esmeray
Anahtar Kelimeler
Children
Familial Mediterranean Fever
Hyperimmunoglobulinemia D Syndrome
Kurumlar
Başkent Üniversitesi
Ankara Turkey
Iİstanbul Üniversitesi
Turkey
Tokat Gaziosmanpaşa Üniversitesi
Tokat Turkey
Metrikler
1
Atıf
3
Yazar
3
Anahtar Kelime