DOCK8 mutation diagnosed using whole-exome sequencing of the dried blood spot-derived DNA: a case report of an Iraqi girl diagnosed in Japan

BACKGROUND: Dedicator of cytokinesis 8 (DOCK8) deficiency (MIM #243700) is a rare disease, leads to a combined primary immunodeficiency (PID), and accounts for the autosomal recessive-hyper immunoglobulin E syndrome (AR-HIES). DOCK8 deficiency status characterizes by recurrent infections, atopy, and...

Descripción completa

Detalles Bibliográficos
Autores principales: Al-Kzayer, Lika’a Fasih Y., Al-Aradi, Hanadi Munaf H., Shigemura, Tomonari, Sano, Kenji, Tanaka, Miyuki, Hamada, Motoharu, Ali, Kenan Hussien, Aldaghir, Osamah Mohammed, Nakazawa, Yozo, Okuno, Yusuke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6595679/
https://www.ncbi.nlm.nih.gov/pubmed/31242861
http://dx.doi.org/10.1186/s12881-019-0837-4

Ejemplares similares

Ejemplares similares