| Autor: |
Saghafi, Shiva, Fazlollahi, Mohammad Reza, Houshmand, Massoud, Movahedi, Massoud, Ali Hamidieh, Amir, Kalantari, Arash, Zandieh, Fariborz, Bemanian, Mohammad Hassan, Nabavi, Mohammad, Parvaneh, Nima, Mahloojirad, Maryam, Glocker, Cristina, Buchta, Mary, Nussbaumer, Franziska, Pourpak, Zahra, Grimbacher, Bodo, Moin, Mostafa |
| Předmět: |
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| Zdroj: |
Iranian Journal of Allergy, Asthma & Immunology; 2018 Supplement, Vol. 17, p40-42, 3p |
| Abstrakt: |
Objective: Hyper-immunoglobulin E syndromes (HIES) are a group of rare primary immunodeficiencies characterized by a triad of recurrent bacterial or viral respiratory infection, skin abscesses with chronic eczema and elevated serum IgE levels. HIES have two common genes: STAT3 and DOCK8 with respectively autosomal dominant (AD) and autosomal recessive (AR) inheritance. We aimed to identify the molecular basis of these genes in HIES patients Material and Methods: Twenty-nine HIES suspected patients referred to the Immunology, Asthma and Allergy Research Institute (IAARI) between 2012 and 2015 were enrolled in this study due to their inclusion criteria. HIES scoring based on NIH questionnaire and subsequently immunological screening tests was done for each patient. Patients were divided by "Homozygosity Mapping" to two groups of heterozygous or homozygous and genetic study was done by PCR considering the priority of STAT3 or DOCK8 gene respectively. Results: Three out of 6 STAT3 mutations were seen in hot spots and the rest in other locations. Ten Dock8 mutations were detected, among them seven revealed large deletions. Totally, 16 out of 29 showed mutations in STAT3 or DOCK8. The mean age of HIES patients was 12.5 years (1.5-30) with a range of IgE level between 2500 to 42000 IU/mL and eosinophilia differs between 80 to 21200/μL. Recurrent pneumonia and skin abscesses with dental and skeletal abnormalities was the most prevalent problem of patients with STAT3 mutation. Severe and persistent viral infections, recurrent pneumonia, and CNS manifestations were seen in DOCK8 deficient patients. During the four years of study, unfortunately 7/10 of our DOCK8 patients died but all STAT3 patients are alive. Conclusion: The clinical phenotypes of the presented patients in both groups are consistent with that of other reports. Genetic study showed that half of the STAT3 mutations were in hot spots and half of them were seen in other locations. In DOCK8 group, the mutations were different from other reports and interestingly new mutations were found. DOCK8 deficiency was mostly due to large deletions. Molecular diagnosis of this gene is a useful approach for timely Hematopoietic Stem Cell Transplantation as a firm therapeutic plan due to deleterious consequences of this syndrome. In addition, the definitive prenatal diagnosis could prevent the birth of another patient child in these families. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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