Open AccessDOCK 8 deficiency in six Iranian patients
Author(s) -
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
Publication year - 2016
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.574
Subject(s) - medicine , consanguinity , eosinophilia , dock , immunodeficiency , immunology , pediatrics , genetics , biology , immune system
Key Clinical Message DOCK 8 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.