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

• Main Authors: Lika'a Fasih Y. Al-Kzayer (Author), Hanadi Munaf H. Al-Aradi (Author), Tomonari Shigemura (Author), Kenji Sano (Author), Miyuki Tanaka (Author), Motoharu Hamada (Author), Kenan Hussien Ali (Author), Osamah Mohammed Aldaghir (Author), Yozo Nakazawa (Author), Yusuke Okuno (Author)
• Format: Book
• Published: BMC, 2019-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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, at...