DOCK8 deficiency in six Iranian patients

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 appr...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891486/
https://www.ncbi.nlm.nih.gov/pubmed/27398204
http://dx.doi.org/10.1002/ccr3.574
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author 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
author_facet 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
author_sort Saghafi, Shiva
collection PubMed
description 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.
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spelling pubmed-48914862016-07-08 DOCK8 deficiency in six Iranian patients 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 Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2016-05-17 /pmc/articles/PMC4891486/ /pubmed/27398204 http://dx.doi.org/10.1002/ccr3.574 Text en © 2016 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial (http://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
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
DOCK8 deficiency in six Iranian patients
title DOCK8 deficiency in six Iranian patients
title_full DOCK8 deficiency in six Iranian patients
title_fullStr DOCK8 deficiency in six Iranian patients
title_full_unstemmed DOCK8 deficiency in six Iranian patients
title_short DOCK8 deficiency in six Iranian patients
title_sort dock8 deficiency in six iranian patients
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891486/
https://www.ncbi.nlm.nih.gov/pubmed/27398204
http://dx.doi.org/10.1002/ccr3.574
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