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Epidemiological findings on Hepatitis C infection in a tertiary level hospital in mid-northern Anatolia in Turkey: A four-year analysis

Taskin MH, Gunal O, Arslan S, Kaya B, Kilic SS, Akkoyunlu GK, et al.

Trop Biomed, 2020 Mar 01;37(1):227-236.
PMID: 33612734

The hepatitis C virus (HCV) is a blood-borne pathogen that causes acute or chronic infection of the liver, sometimes leading to serious liver damage and fatality. The objective of this study was to evaluate HCV prevalence in patients attending the Regional Training and Research Hospital for Medical Examination and Surgery in Samsun Province of Turkey between 2014 and 2017. Blood specimens taken from 152 596 patients were screened for HCV infection by using the anti-HCV assay. Seropositive samples were subjected to polymerase chain reaction (PCR) testing in order to determine whether the HCV infection was active. Genotyping was then performed. Overall, HCV seropositivity and active HCV infection were 2.76% and 2.05%, respectively. Foreign nationals accounted for 5.61% of the seropositive samples and 1.37% of active HCV infective samples. We further report that 2017 was the year with the highest seroprevalence which was 3.64%. HCV genotype 1 was the most common genotype detected in residents of Samsun Province at 89.86%, followed by Genotype 3 at 4.54%. This study provides important information on the levels of HCV infection in the Samsun region of Turkey. The data indicate that there was a rising trend of HCV infection between 2014 and 2017.
Fulltext Consensus Middle East and North Africa Registry on Inborn Errors of Immunity

Aghamohammadi A, Rezaei N, Yazdani R, Delavari S, Kutukculer N, Topyildiz E, et al.

J Clin Immunol, 2021 08;41(6):1339-1351.
PMID: 34052995 DOI: 10.1007/s10875-021-01053-z

BACKGROUND: Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications. The IEI burden has been critically underestimated in countries from middle- and low-income regions and the majority of patients with IEI in these regions lack a molecular diagnosis.
METHODS: We analyzed the clinical, immunologic, and genetic data of IEI patients from 22 countries in the Middle East and North Africa (MENA) region. The data was collected from national registries and diverse databases such as the Asian Pacific Society for Immunodeficiencies (APSID) registry, African Society for Immunodeficiencies (ASID) registry, Jeffrey Modell Foundation (JMF) registry, J Project centers, and International Consortium on Immune Deficiency (ICID) centers.
RESULTS: We identified 17,120 patients with IEI, among which females represented 39.4%. Parental consanguinity was present in 60.5% of cases and 27.3% of the patients were from families with a confirmed previous family history of IEI. The median age of patients at the onset of disease was 36 months and the median delay in diagnosis was 41 months. The rate of registered IEI patients ranges between 0.02 and 7.58 per 100,000 population, and the lowest rates were in countries with the highest rates of disability-adjusted life years (DALY) and death rates for children. Predominantly antibody deficiencies were the most frequent IEI entities diagnosed in 41.2% of the cohort. Among 5871 patients genetically evaluated, the diagnostic yield was 83% with the majority (65.2%) having autosomal recessive defects. The mortality rate was the highest in patients with non-syndromic combined immunodeficiency (51.7%, median age: 3.5 years) and particularly in patients with mutations in specific genes associated with this phenotype (RFXANK, RAG1, and IL2RG).
CONCLUSIONS: This comprehensive registry highlights the importance of a detailed investigation of IEI patients in the MENA region. The high yield of genetic diagnosis of IEI in this region has important implications for prevention, prognosis, treatment, and resource allocation.
The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity

Baris S, Abolhassani H, Massaad MJ, Al-Nesf M, Chavoshzadeh Z, Keles S, et al.

J Allergy Clin Immunol Pract, 2023 Jan;11(1):158-180.e11.
PMID: 36265766 DOI: 10.1016/j.jaip.2022.10.003

Human inborn errors of immunity (IEI) are a group of 485 distinct genetic disorders affecting children and adults. Signs and symptoms of IEI are heterogeneous, and accurate diagnosis can be challenging and depends on the available human expertise and laboratory resources. The Middle East and North Africa (MENA) region has an increased prevalence of IEI because of the high rate of consanguinity with a predominance of autosomal recessive disorders. This area also exhibits more severe disease phenotypes compared with other regions, probably due to the delay in diagnosis. The MENA-IEI registry network has designed protocols and guidelines for the diagnosis and treatment of IEI, taking into consideration the variable regional expertise and resources. These guidelines are primarily meant to improve the care of patients within the region, but can also be followed in other regions with similar patient populations.
Fulltext The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

Engelhardt KR, Gertz ME, Keles S, Schäffer AA, Sigmund EC, Glocker C, et al.

J Allergy Clin Immunol, 2015 Aug;136(2):402-12.
PMID: 25724123 DOI: 10.1016/j.jaci.2014.12.1945

BACKGROUND: Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). Recognizing patients with CID/HIES is of clinical importance because of the difference in prognosis and management.
OBJECTIVES: We sought to define the clinical features that distinguish DOCK8 deficiency from other forms of HIES and CIDs, study the mutational spectrum of DOCK8 deficiency, and report on the frequency of specific clinical findings.
METHODS: Eighty-two patients from 60 families with CID and the phenotype of AR-HIES with (64 patients) and without (18 patients) DOCK8 mutations were studied. Support vector machines were used to compare clinical data from 35 patients with DOCK8 deficiency with those from 10 patients with AR-HIES without a DOCK8 mutation and 64 patients with signal transducer and activator of transcription 3 (STAT3) mutations.
RESULTS: DOCK8-deficient patients had median IgE levels of 5201 IU, high eosinophil levels of usually at least 800/μL (92% of patients), and low IgM levels (62%). About 20% of patients were lymphopenic, mainly because of low CD4(+) and CD8(+) T-cell counts. Fewer than half of the patients tested produced normal specific antibody responses to recall antigens. Bacterial (84%), viral (78%), and fungal (70%) infections were frequently observed. Skin abscesses (60%) and allergies (73%) were common clinical problems. In contrast to STAT3 deficiency, there were few pneumatoceles, bone fractures, and teething problems. Mortality was high (34%). A combination of 5 clinical features was helpful in distinguishing patients with DOCK8 mutations from those with STAT3 mutations.
CONCLUSIONS: DOCK8 deficiency is likely in patients with severe viral infections, allergies, and/or low IgM levels who have a diagnosis of HIES plus hypereosinophilia and upper respiratory tract infections in the absence of parenchymal lung abnormalities, retained primary teeth, and minimal trauma fractures.