DOCK8 deficiency in six Iranian patients. Issue 6 (17th May 2016)

• Record Type: Journal Article
• Authors: Saghafi, Shiva; Pourpak, Zahra; Nussbaumer, Franziska; Fazlollahi, Mohammad Reza; Houshmand, Massoud; Hamidieh, Amir Ali; Bemanian, Mohammad Hassan; Nabavi, Mohammad; Parvaneh, Nima; Grimbacher, Bodo; Moin, Mostafa; Glocker, Cristina
• Is Part Of: Clinical case reports. Volume 4:Issue 6(2016)
• Page Start: 593
• Page End: 600
• Publication Date: 2016-05-17
• Subjects: Allergy -- autosomal recessive -- DOCK8 -- hyper IgE syndrome; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.574
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: DOCK8 deficiency is a rare autosomal recessive combined immunodeficiency with high IgE level, eosinophilia, severe eczema, extensive cutaneous viral, and respiratory bacterial infections, mostly in populations with higher prevalence of consanguinity. Molecular diagnosis of this gene is a useful approach for early diagnosis and timely HSCT due to deleterious consequences. Abstract : DOCK8 deficiency is a rare autosomal recessive combined immunodeficiency with high IgE level, eosinophilia, severe eczema, extensive cutaneous viral, and respiratory bacterial infections, mostly in populations with higher prevalence of consanguinity. Molecular diagnosis of this gene is a useful approach for early diagnosis and timely HSCT due to deleterious consequences.