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

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

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...

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Bibliographic Details
Main Authors: Lika’a Fasih Y. Al-Kzayer, Hanadi Munaf H. Al-Aradi, Tomonari Shigemura, Kenji Sano, Miyuki Tanaka, Motoharu Hamada, Kenan Hussien Ali, Osamah Mohammed Aldaghir, Yozo Nakazawa, Yusuke Okuno
Format: Article
Language:English
Published: BMC 2019-06-01
Series:BMC Medical Genetics
Subjects:
DOCK8 deficiency
Primary immune deficiency (PID)
Dried blood spots
Flinders technology associates (FTA) cards
Whole exome sequencing (WES)
Hyper immunoglobulin E syndrome (HIES)
Online Access:http://link.springer.com/article/10.1186/s12881-019-0837-4

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