A

 

Aicardi-Goutieres sendromu

7 fenotip (Aicardi-Goutieres sendromu 5. fenotip dışında oral bulgu yok)

 

Aicardi-Goutieres sendromu 5:

Kalıtsal - AR

Ağızda ülserli stomatit

Eklem patolojileri

Deri kuru-kepekli

Kronik dermatitler

Psikosomatik gelişme geriliği

Hipotoni spastik görünüm

İntraserebral kalsifikasyonlar

Lökoensefalopati

 

  • Rice GI, Bond J, Asipu A, et al. Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. Nature Genetics, 41: 829-832, 2009

  • Dale RC, Gornall H, Singh-Grewal D, et al. Familial Aicardi-Goutieres syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. American Jornal of Medical Genetics, 152A: 938-942, 2010

  • Leshinsky-Silver E, Malinger G, Ben-Sira L, et al. A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutieres syndrome associated with mtDNA deletions. European Jornal of Human Genetics,  19: 287-292, 2011

  • Adang LA, Frank DB, Gilani A, et al. Aicardi Goutieres syndrome is associated with pulmonary hypertension. Molecular Genetics & Metabolism, 125: 351-358, 2018