19 results on '"Akar HH"'
Search Results
2. Diagnostic challenges of old diseases in the COVID-19 era: a report of two cases of carbamazepine-induced DRESS syndrome.
- Author
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Yakut N, Yuksel E, Algul M, Armut M, and Akar HH
- Subjects
- Humans, Child, Carbamazepine adverse effects, Anticonvulsants adverse effects, Drug Hypersensitivity Syndrome diagnosis, Drug Hypersensitivity Syndrome etiology, Drug Hypersensitivity Syndrome drug therapy, COVID-19 Drug Treatment
- Abstract
Introduction: A new MIS-C that develops after the acute stage of COVID-19 infection has recently been reported worldwide. Drug reaction with eosinophilia and systemic symptoms syndrome is a rare but potentially severe adverse drug-induced reaction most commonly associated with anticonvulsants. Due to variability in clinical presentation involving cutaneous and multiorgan systems, broad differential diagnosis, and lack of definitive diagnostic tests, diagnosis may be delayed., Case Reports: The authors report 2 cases of pediatric patients who presented with fever, diffuse rash, and exposure to COVID-19 infection with suspected MIS-C. Both patients' medical histories revealed carbamazepine treatment for approximately 2 months. The diagnosis of DRESS syndrome was associated with the use of carbamazepine., Conclusions: Distinguishing between MIS-C and DRESS syndrome may be difficult due to similar clinical and laboratory features and the lack of definitive diagnostic tests for either condition. When encountering cases like the current report, it is important to consider DRESS syndrome for early diagnosis and medical intervention.
- Published
- 2022
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3. EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children.
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Kalina T, Bakardjieva M, Blom M, Perez-Andres M, Barendregt B, Kanderová V, Bonroy C, Philippé J, Blanco E, Pico-Knijnenburg I, Paping JHMP, Wolska-Kuśnierz B, Pac M, Tkazcyk J, Haerynck F, Akar HH, Formánková R, Freiberger T, Svatoň M, Šedivá A, Arriba-Méndez S, Orfao A, van Dongen JJM, and van der Burg M
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- Child, Preschool, Female, HLA-DR Antigens analysis, Humans, Infant, Infant, Newborn, Male, Primary Immunodeficiency Diseases immunology, Severe Combined Immunodeficiency immunology, Flow Cytometry methods, Immunophenotyping methods, Primary Immunodeficiency Diseases diagnosis, T-Lymphocytes immunology, Thymus Gland immunology
- Abstract
The EuroFlow PID consortium developed a set of flow cytometry tests for evaluation of patients with suspicion of primary immunodeficiency (PID). In this technical report we evaluate the performance of the SCID-RTE tube that explores the presence of recent thymic emigrants (RTE) together with T-cell activation status and maturation stages and discuss its applicability in the context of the broader EuroFlow PID flow cytometry testing algorithm for diagnostic orientation of PID of the lymphoid system. We have analyzed peripheral blood cells of 26 patients diagnosed between birth and 2 years of age with a genetically defined primary immunodeficiency disorder: 15 severe combined immunodeficiency (SCID) patients had disease-causing mutations in RAG1 or RAG2 ( n = 4, two of them presented with Omenn syndrome), IL2RG ( n = 4, one of them with confirmed maternal engraftment), NHEJ1 ( n = 1), CD3E ( n = 1), ADA ( n = 1), JAK3 ( n = 3, two of them with maternal engraftment) and DCLRE1C ( n = 1) and 11 other PID patients had diverse molecular defects [ ZAP70 ( n = 1), WAS ( n = 2), PNP ( n = 1), FOXP3 ( n = 1), del22q11.2 (DiGeorge n = 4), CDC42 ( n = 1) and FAS ( n = 1)]. In addition, 44 healthy controls in the same age group were analyzed using the SCID-RTE tube in four EuroFlow laboratories using a standardized 8-color approach. RTE were defined as CD62L+CD45RO-HLA-DR-CD31+ and the activation status was assessed by the expression of HLA-DR+. Naïve CD8+ T-lymphocytes and naïve CD4+ T-lymphocytes were defined as CD62L+CD45RO-HLA-DR-. With the SCID-RTE tube, we identified patients with PID by low levels or absence of RTE in comparison to controls as well as low levels of naïve CD4+ and naïve CD8+ lymphocytes. These parameters yielded 100% sensitivity for SCID. All SCID patients had absence of RTE, including the patients with confirmed maternal engraftment or oligoclonally expanded T-cells characteristic for Omenn syndrome. Another dominant finding was the increased numbers of activated CD4+HLA-DR+ and CD8+HLA-DR+ lymphocytes. Therefore, the EuroFlow SCID-RTE tube together with the previously published PIDOT tube form a sensitive and complete cytometric diagnostic test suitable for patients suspected of severe PID (SCID or CID) as well as for children identified via newborn screening programs for SCID with low or absent T-cell receptor excision circles (TRECs)., (Copyright © 2020 Kalina, Bakardjieva, Blom, Perez-Andres, Barendregt, Kanderová, Bonroy, Philippé, Blanco, Pico-Knijnenburg, Paping, Wolska-Kuśnierz, Pac, Tkazcyk, Haerynck, Akar, Formánková, Freiberger, Svatoň, Šedivá, Arriba-Méndez, Orfao, van Dongen and van der Burg.)
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- 2020
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4. The Role of Irisin, Insulin and Leptin in Maternal and Fetal Interaction
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Ökdemir D, Hatipoğlu N, Kurtoğlu S, Siraz ÜG, Akar HH, Muhtaroğlu S, and Kütük MS
- Subjects
- Adult, Birth Weight, Female, Gestational Age, Humans, Infant, Newborn, Infant, Small for Gestational Age blood, Male, Obesity blood, Pregnancy, Pregnancy Complications blood, Young Adult, Fetal Blood metabolism, Fibronectins blood, Insulin blood, Leptin blood
- Abstract
Objective: Insulin is an important hormone for intrauterine growth. Irisin is an effective myokine in the regulation of physiological insulin resistance in pregnancy. Leptin and insulin are associated with fetal growth and fetal adiposity. In this study, we aimed to investigate the relationships between irisin, insulin and leptin levels and maternal weight gain, as well as anthropometric measurements in the newborn., Methods: Eighty-four mothers and newborns were included in the study. Irisin, leptin and insulin levels were measured in the mothers and in cord blood. Anthropometric measurements in the newborn, maternal weight at the beginning of the pregnancy and at delivery were recorded., Results: Birth weight were classified as small for gestational age (SGA), appropriate for gestational age (AGA) and large for gestational age (LGA). There was no difference in irisin levels among the groups. Leptin and insulin levels were found to change significantly according to birth weight (p=0.013, and p=0.012, respectively). There was a negative correlation between the anthropometric measurements of the AGA newborns and irisin levels. This correlation was not observed in SGA and LGA babies. Leptin levels were associated with fetal adiposity., Conclusion: While irisin levels are not affected by weight gain during pregnancy nor by birth weight, they show a relationship with anthropometric measurements in AGA infants. These results may lead to the understanding of metabolic disorders that will occur in later life.
- Published
- 2018
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5. Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience.
- Author
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Patiroglu T, Akar HH, Unal E, Ozdemir MA, and Karakukcu M
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- Adolescent, Child, Child, Preschool, Communicable Diseases etiology, Female, Graft vs Host Disease etiology, HLA Antigens immunology, Histocompatibility, Humans, Immunologic Deficiency Syndromes diagnosis, Immunologic Deficiency Syndromes immunology, Infant, Male, Risk Factors, Time Factors, Transplantation, Haploidentical, Treatment Outcome, Turkey, Hematopoietic Stem Cell Transplantation adverse effects, Immunologic Deficiency Syndromes surgery
- Abstract
Objectives: The only curative treatment for many patients with primary immunodeficiency disease is hematopoietic stem cell transplant. In this study, we report the transplant outcomes of patients with primary immunodeficiency diseases., Materials and Methods: Herein, we present the transplant outcomes of 20 patients with primary immunodeficiency disease seen at our center in Kayseri, Turkey, from 2010 to 2015., Results: The disease distribution of the 20 patients were as follows: 6 patients with severe combined immunodeficiency, 4 patients with hemophagocytic lymphohistiocytosis, 2 patients with chronic granulomatous disease, 2 patients with type 2 Griscelli syndrome, 2 patients with B-cell deficiency plus bone marrow failure, 1 patient with severe congenital neutropenia, 1 patient with X-linked lymphoproliferative disease, 1 patient with T-cell deficiency plus relapsed non-Hodgkin lymphoma, and 1 patient with type 1 leukocyte adhesion deficiency. Of the 20 patients, 11 received related HLA-matched, 6 received haploidentical, 2 received unrelated HLA-matched, and 1 received HLA-mismatched transplant. The median age at transplant was 21 months, and median follow-up was 5 months. Overall survival rate was 65%. Mean engraftment times for neutrophils and platelets were 14.25 ± 3.08 and 24.7 ± 11.4 days. Graft-versus-host disease was observed in 30% of patients., Conclusions: Patients with primary immunodeficiency disease treated at our center had acceptable transplant outcomes. This study supports the use of hematopoietic stem cell transplant in patients with primary immunodeficiency disease.
- Published
- 2017
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6. Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.
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Chiang SCC, Wood SM, Tesi B, Akar HH, Al-Herz W, Ammann S, Belen FB, Caliskan U, Kaya Z, Lehmberg K, Patiroglu T, Tokgoz H, Ünüvar A, Introne WJ, Henter JI, Nordenskjöld M, Ljunggren HG, Meeths M, Ehl S, Krzewski K, and Bryceson YT
- Abstract
Chediak-Higashi syndrome (CHS) is caused by autosomal recessive mutations in LYST , resulting in enlarged lysosomal compartments in multiple cell types. CHS patients display oculocutaneous albinism and may develop life-threatening hemophagocytic lymphohistiocytosis (HLH). While NK cell-mediated cytotoxicity has been reported to be uniformly defective, variable defects in T cell-mediated cytotoxicity has been observed. The latter has been linked to the degree of HLH susceptibility. Since the discrepancies in NK cell- and T cell-mediated cellular cytotoxicity might result from differences in regulation of cytotoxic granule release, we here evaluated perforin-containing secretory lysosome size and number in freshly isolated lymphocytes from CHS patients and furthermore compared their exocytic capacities. Whereas NK cells from CHS patients generally contained a single, gigantic perforin-containing granule, cytotoxic T cells predominantly contained several smaller granules. Nonetheless, in a cohort of 21 CHS patients, cytotoxic T cell and NK cell granule exocytosis were similarly impaired upon activating receptor stimulation. Mechanistically, polarization of cytotoxic granules was defective in cytotoxic lymphocytes from CHS patients, with EEA1, a marker of early endosomes, mislocalizing to lysosomal structures. The results leads to the conclusion that lysosome enlargement corresponds to loss of distinct organelle identity in the endocytic pathway, which on a subcellular level more adversely affects NK cells than T cells. Hence, vesicular size or numbers do not per se dictate the impairment of lysosomal exocytosis in the two cell types studied.
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- 2017
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7. The Frequency of HLA-A, HLA-B, and HLA-DRB1 Alleles in Patients with Acute Lymphoblastic Leukemia in the Turkish Population: A Case-Control Study.
- Author
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Patıroğlu T and Akar HH
- Subjects
- Adolescent, Case-Control Studies, Child, Child, Preschool, Female, Genetic Association Studies, Genetic Predisposition to Disease, Haplotypes, Histocompatibility Testing, Homozygote, Humans, Infant, Male, Odds Ratio, Population Surveillance, Precursor Cell Lymphoblastic Leukemia-Lymphoma diagnosis, Turkey epidemiology, Alleles, Gene Frequency, HLA-A Antigens genetics, HLA-B Antigens genetics, HLA-DRB1 Chains genetics, Precursor Cell Lymphoblastic Leukemia-Lymphoma epidemiology, Precursor Cell Lymphoblastic Leukemia-Lymphoma genetics
- Abstract
We studied the frequencies of human leukocyte antigen alleles (A, B, and DRB1) in 90 patients with acute lymphoblastic leukemia (ALL) and then compared them with 126 controls in this study. Although the frequencies of the A*03 allele, the DRB1*03 allele, the DRB1*04 allele, the A*02/B*35/DRB1*13 haplotype, and homozygosity of A*02 were higher in patients (p=0.006, p=0.003, p=0.002, p=0.01, and p=0.02, respectively), the frequencies of the A*23, B*13, B*40, and DRB1*13 alleles were lower (p=0.002, p=0.07, p=0.002, and p=0.003, respectively) in patients than controls. The frequencies of the DRB1*04 and DRB1*07 alleles were higher in patients in the high-risk group and standard-risk group, respectively (p=0.009 and p=0.007, respectively). This study indicated that the frequency of the A*03 allele, the DRB1*03 allele, the DRB1*04 allele, the A*02/B*35/DRB1*13 haplotype, and A*02 homozygosity may play a predisposing role in patients with ALL in the Turkish population. The frequency of the DRB1*04 and DRB1*07 alleles may also be associated with high risk and standard risk in patients with ALL, respectively., Competing Interests: The authors of this paper have no conflicts of interest, including specific financial interests, relationships, and/or affiliations relevant to the subject matter or materials included.
- Published
- 2016
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8. XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.
- Author
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IJspeert H, Rozmus J, Schwarz K, Warren RL, van Zessen D, Holt RA, Pico-Knijnenburg I, Simons E, Jerchel I, Wawer A, Lorenz M, Patıroğlu T, Akar HH, Leite R, Verkaik NS, Stubbs AP, van Gent DC, van Dongen JJ, and van der Burg M
- Subjects
- Animals, Antigens metabolism, Complementarity Determining Regions genetics, DNA Nucleotidylexotransferase metabolism, DNA Repair Enzymes metabolism, DNA-Binding Proteins metabolism, Gene Rearrangement genetics, High-Throughput Nucleotide Sequencing, Humans, Immunoglobulins genetics, Mice, Radiation, Ionizing, Receptors, Antigen, T-Cell genetics, DNA Repair Enzymes deficiency, DNA-Binding Proteins deficiency, Nucleotides metabolism, V(D)J Recombination genetics
- Abstract
Repair of DNA double-strand breaks (DSBs) by the nonhomologous end-joining pathway (NHEJ) is important not only for repair of spontaneous breaks but also for breaks induced in developing lymphocytes during V(D)J (variable [V], diversity [D], and joining [J] genes) recombination of their antigen receptor loci to create a diverse repertoire. Mutations in the NHEJ factor XLF result in extreme sensitivity for ionizing radiation, microcephaly, and growth retardation comparable to mutations in LIG4 and XRCC4, which together form the NHEJ ligation complex. However, the effect on the immune system is variable (mild to severe immunodeficiency) and less prominent than that seen in deficiencies of NHEJ factors ARTEMIS and DNA-dependent protein kinase catalytic subunit, with defects in the hairpin opening step, which is crucial and unique for V(D)J recombination. Therefore, we aimed to study the role of XLF during V(D)J recombination. We obtained clinical data from 9 XLF-deficient patients and performed immune phenotyping and antigen receptor repertoire analysis of immunoglobulin (Ig) and T-cell receptor (TR) rearrangements, using next-generation sequencing in 6 patients. The results were compared with XRCC4 and LIG4 deficiency. Both Ig and TR rearrangements showed a significant decrease in the number of nontemplated (N) nucleotides inserted by terminal deoxynucleotidyl transferase, which resulted in a decrease of 2 to 3 amino acids in the CDR3. Such a reduction in the number of N-nucleotides has a great effect on the junctional diversity, and thereby on the total diversity of the Ig and TR repertoire. This shows that XLF has an important role during V(D)J recombination in creating diversity of the repertoire by stimulating N-nucleotide insertion., (© 2016 by The American Society of Hematology.)
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- 2016
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9. Plasma glutamine and cystine are decreased and negatively correlated with endomysial antibody in children with celiac disease.
- Author
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Sevinc E, Sevinc N, Akar HH, Ozelcoskun BD, Sezgin GC, Arslan D, and Kendirci M
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- Adolescent, Child, Child, Preschool, Female, Humans, Male, Autoantibodies blood, Celiac Disease blood, Celiac Disease immunology, Cystine blood, Glutamine blood
- Abstract
Background and Objectives: Glutamine is a nonessential amino acid which improves intestinal mucosal regeneration and absorption. Glutathione is a vital molecule for antioxidant reactions and is synthesized from cystine. The first aim of the study is to measure the plasma glutamine and cystine in children with celiac disease (CD) and compare them with controls. The second aim of this study is to investigate whether these amino acids are correlated with endomysial antibody (EMA) or not., Methods and Study Design: Fifty children with CD were compared to 50 healthy, age, and sex matched normal children as control. Plasma glutamine and cystine levels of the children were measured by using tandem mass spectrometry., Results: Plasma glutamine (808 vs 870 μmol/L) and cystine (19 vs 48.5 μmol/L) were significantly lower in the celiac group than the controls (p<0.05). The levels of plasma glutamine (797 vs 928 μmol/L, n=42) and cystine (18 vs 31.5 μmol/L, n=8) were lower (p<0.05) in the EMA-positive than the EMA-negative celiac patients. We could not find any statistically significance between EMA-negative celiac patients and controls for the plasma glutamine (928 vs 870 μmol/L) and cystine (31.5 vs 48.5 μmol/L) (p>0.05). Serum EMA was negatively correlated with plasma cystine (r=-0,321, p=0.023), glutamine (r=-0.413, p=0.003)., Conclusions: Our study indicated that plasma glutamine and cystine were significantly lower in the celiac children than the controls. Also, these amino acids were negatively correlated with EMA.
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- 2016
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10. Combined immunodeficiencies: twenty years experience from a single center in Turkey.
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Akar HH, Patiroglu T, Hershfield M, and van der Burg M
- Abstract
Combined immunodeficiencies (CIDs) include a group of inherited monogenic disorders. CIDs are characterized by defective cellular and humoral immunities that lead to severe infections. CIDs can be classified according to immunologic phenotypes as T(-)B(-)NK(-) CID, T(-)B(-)NK(+) CID, T(-)B(+)NK(-) CID and T(-)B(+)NK(+) CID. In a 20-year period, from 1994 to 2014, a total of 40 CID patients were diagnosed at the Pediatric Immunology of Erciyes University Medical Faculty in Kayseri, Turkey. The gender ratio (F/M) was 3/5. The median age at the onset of symptoms was 2 months (range, 15 days - 15 years). Of the 14 T(-)B(-)NK(-) CIDs, 6, 2 (siblings), 1, 1 and 4 had a mutation in the ADA, PNP, Artemis, RAG1 genes and unknown genetic diagnosis respectively. Of the 15 T(-)B(-)NK(+) CIDs, 3, 2 (siblings) and 10 had a mutation in the RAG1, XLF/Cernunnos genes and unknown genetic diagnosis respectively. Of the 9 T(-)B(+)NK(-) CIDs, 2 siblings, 1, 1 and 5 had a mutation in the ZAP70, IL2RG, DOCK8 genes and unknown genetic diagnosis respectively. Of the 2 T(-)B(+)NK(+) CIDs, 2 had a mutation in the MAGT1 and ZAP70 genes respectively. Of the 40 CIDs, 26 (65%) were died and 14 (35%) are alive. Eight patients received HSCT (hematopoietic stem cell transplantation) with 62.5% survival rate. As a result, patients presented with severe infections in the first months of life have to be examined for CIDs. Shortening time of diagnosis would increase chance of HSCT as life-saving treatment in the CID patients.
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- 2016
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11. Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
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Tesi B, Lagerstedt-Robinson K, Chiang SC, Ben Bdira E, Abboud M, Belen B, Devecioglu O, Fadoo Z, Yeoh AE, Erichsen HC, Möttönen M, Akar HH, Hästbacka J, Kaya Z, Nunes S, Patiroglu T, Sabel M, Saribeyoglu ET, Tvedt TH, Unal E, Unal S, Unuvar A, Meeths M, Henter JI, Nordenskjöld M, and Bryceson YT
- Subjects
- Adolescent, Adult, Age of Onset, Aged, Child, Child, Preschool, Cohort Studies, Female, Genetic Predisposition to Disease, Genetic Testing, Humans, Infant, Infant, Newborn, Male, Middle Aged, Mutation, Prospective Studies, Sequence Analysis, DNA, Young Adult, Base Sequence, Lymphohistiocytosis, Hemophagocytic diagnosis, Lymphohistiocytosis, Hemophagocytic genetics
- Abstract
Background: Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management. Here, we validated and prospectively evaluated a targeted high-throughput sequencing approach for HLH diagnostics., Methods: A high-throughput sequencing strategy of 12 genes linked to HLH was validated in 13 patients with previously identified HLH-associated mutations and prospectively evaluated in 58 HLH patients. Moreover, 2504 healthy individuals from the 1000 Genomes project were analyzed in silico for variants in the same genes., Results: Analyses revealed a mutation detection sensitivity of 97.3%, an average coverage per gene of 98.0%, and adequate coverage over 98.6% of sites previously reported as mutated in these genes. In the prospective cohort, we achieved a diagnosis in 22 out of 58 patients (38%). Genetically undiagnosed HLH patients had a later age at onset and manifested higher frequencies of known secondary HLH triggers. Rare, putatively pathogenic monoallelic variants were identified in nine patients. However, such monoallelic variants were not enriched compared with healthy individuals., Conclusions: We have established a comprehensive high-throughput platform for genetic screening of patients with HLH. Almost all cases with reduced natural killer cell function received a diagnosis, but the majority of the prospective cases remain genetically unexplained, highlighting genetic heterogeneity and environmental impact within HLH. Moreover, in silico analyses of the genetic variation affecting HLH-related genes in the general population suggest caution with respect to interpreting causality between monoallelic mutations and HLH. A complete understanding of the genetic susceptibility to HLH thus requires further in-depth investigations, including genome sequencing and detailed immunological characterization.
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- 2015
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12. THE INFLUENCE OF HLA-DQ2 HETERODIMERS ON THE CLINICAL FEATURES AND LABORATORY OF PATIENTS WITH CELIAC DISEASE.
- Author
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Akar HH, Yıldız M, Sevinc E, and Sokucu S
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- Adolescent, Alleles, Body Mass Index, Celiac Disease blood, Celiac Disease pathology, Child, Child, Preschool, Female, Genetic Predisposition to Disease, Genotype, Gliadin immunology, HLA-DQ Antigens blood, Humans, Infant, Male, Biomarkers blood, Celiac Disease genetics, HLA-DQ Antigens genetics
- Abstract
Background and Aim: the essential genetic marker related with celiac disease (CD) is the HLA-DQ2 molecule encoded by the DQA1*0501 and DQB1*0201 genes. The aim of this study is to evaluate effect of these alleles on the clinical, serological and histological features of Turkish children with celiac disease., Material and Methods: we divided 36 celiac patients to 4 groups according to their HLA-DQ2 genotype based on the presence or absence of DQA1*0501 and DQB1*0201 alleles. Group 1: 4 patients had no HLA-DQ2A1*0501 and DQ2B1*0201 alleles, Group 2: 12 patients had at least one of these alleles with heterozygous status, Group 3: 12 patients had both alleles with heterozygous status, Group 4: 8 patients had both alleles with homozygous status. We compared groups according to the clinical, serological, histological, and biochemical features., Results: there was no statistical significance among the groups for age, body mass index (BMI), weight for height, and onset of symptoms. However, both in groups 3 and 4 compared with groups 1 and 2, minor differences were observed for BMI and anti-gliadin antibody (AGA) without statistical significance. According to the anti-endomysial antibody (EMA), Marsh scores, clinical presentations, hematological and biochemical values, there was no statistical significance among groups without constipation that observed higher rate in the 4th group without statistically significance. Hypothyroidism was detected in one patient (25%) in the lowest genetic load group (Group 1) with statistically significance (p < 0.046)., Conclusion: in this study, small differences found among groups were not elucidated the impact of HLADQ2 A1*0501 and DQ2B1*0201 alleles on the clinical, serological and laboratory manifestations of celiac patients. Further studies are needed to assess the effect of reported HLA alleles and other genetic polymorphisms on CD outcomes in children., (Copyright AULA MEDICA EDICIONES 2014. Published by AULA MEDICA. All rights reserved.)
- Published
- 2015
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13. Contribution of KIR genes, HLA class I ligands, and KIR/HLA class I ligand combinations on the genetic predisposition to celiac disease and coexisting celiac disease and type 1 diabetes mellitus.
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Akar HH, Patiroglu T, Sevinc E, Aslan D, Okdemir D, and Kurtoglu S
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- Adolescent, Celiac Disease complications, Celiac Disease epidemiology, Child, Child, Preschool, Diabetes Mellitus, Type 1 complications, Diabetes Mellitus, Type 1 epidemiology, Female, Gene Frequency, Genetic Predisposition to Disease, Humans, Ligands, Male, Turkey epidemiology, Celiac Disease genetics, Diabetes Mellitus, Type 1 genetics, Genes, MHC Class I genetics, Receptors, KIR genetics
- Abstract
Backgound and Aim: There are some common genetic features between celiac disease (CD) and diabetes mellitus type 1 (DM). However, the genetic risk factors have not been fully clarified for CD and the co-occurrence of CD and DM. KIR (killer immunoglobulin-like receptor) genes regulate the cytolitic activity of NK-cells and T lymphocytes. The aim of this study is to evaluate the contribution of KIR genes, KIR ligands, and combinations of KIR/ KIR ligands on the genetic predisposition to CD and co-occurrence of CD and DM., Material and Methods: Forty six patients with CD (n = 46), 20 patients with CD+DM (n = 20), and 60 healthy controls (n = 60) were included in this study. KIR genes and KIR ligands were investigated with PCR-SSOP and PCR-SSP in all subjects, respectively., Results: This study showed that while the telomeric KIR genes (2DS5 and 3DS1), and combinations of 3DS1+HLA-BBw4-Thrand 3DS1+HLA-BBw4-Iso- (p < 0.001, p < 0.001, p < 0.001, and p < 0.001, respectively) were observed more frequently in patients with CD than in controls, the 2DS5, 3DS1 KIR genes, C1 ligand, and combinations of 3DS1+HLA-BBw4-Thr- and 3DS1+HLA-BBw4-Iso- (p = 0.002, p = 0.004, p = 0.036, p < 0.001, and p = 0.007, respectively) were observed more frequently in patients with CD+DM than in controls., Conclusions: The results of this study indicated that some KIR genes, KIR ligands, and KIR/KIR ligand interactions may be responsible for a predisposition to CD and the coexistence of CD and DM. For development of coexisting CD and DM, the 2DS5 and 3DS1 genes, C1 ligand, and combinations of 3DS1+HLA-BBw4-Thr- and 3DS1+HLA-BBw4-Iso- were found to be risk factors.
- Published
- 2015
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14. Relationships of Human Leukocyte Antigen-A, -B, -DRB1 Alleles, and Haplotypes in 129 Ethnic Turkish Patients With Acute Myeloblastic Leukemia.
- Author
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Patiroglu T and Akar HH
- Subjects
- Chi-Square Distribution, DNA Mutational Analysis, Female, Gene Frequency, Haplotypes, Humans, Male, Turkey epidemiology, Turkey ethnology, Genetic Predisposition to Disease genetics, HLA-A Antigens genetics, HLA-B Antigens genetics, HLA-DRB1 Chains genetics, Leukemia, Myeloid, Acute ethnology, Leukemia, Myeloid, Acute genetics
- Abstract
Objective: To evaluate the frequencies of HLA class I (A, B) and class II (DRB1) alleles in acute myeloblastic leukemia (AML) and to compare them with the frequencies of those alleles in unrelated, healthy ethnic Turkish control subjects., Method: We investigated the relationship of HLA alleles in 129 ethnic Turkish patients with AML and 126 unrelated, healthy, ethnic Turkish controls using the polymerase chain reaction with sequence-specific oligonucleotide probes (PCR-SSOP) method via Luminex technology., Results: Allele frequencies of HLA-A*23, HLA-A*68, HLA-B*13, HLA-B*40, and HLA-DRB1*01 were lower in patients with AML compared with control individuals (P =.04, P =.02, P =.005, P = 02, and P =.02, respectively). In contrast, the HLA-DRB1*15 allele frequency was higher than in the controls (P =.01). The most commonly observed haplotype was A*01/B*08/DRB1*03 (5.4% vs 0.8%; P =.03) in patients with AML. In contrast, the most commonly observed haplotype was A*02/B*35/DRB1*04 (2.3% vs 3.2%) in controls. We could not find any haplotypes negatively associated with AML. Also, the homozygosity of HLA-A*01 and HLA-A*02 alleles were higher in patients with AML compared with controls (P =.046; P =.001, respectively)., Conclusions: The HLA-DRB1*15 allele, the A*01/B*08/DRB1*03 haplotypes, and the homozygosity of HLA-A*01 and HLA-A*02 may play a presumptive predisposing factor in AML. Also, the HLA-A*23, HLA-A*68, HLA-B*13, HLA-B*40, and HLA-DRB1*01 alleles have been found to be negatively associated with AML.
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- 2015
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15. Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene.
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Patiroglu T and Akar HH
- Subjects
- Adolescent, Child, Female, Humans, Male, Siblings, Syndrome, Mutation, Neutropenia genetics, Phosphoric Diester Hydrolases genetics, Skin Abnormalities genetics
- Abstract
Clericuzio-type poikiloderma with neutropenia (PN) is characterized by poikiloderma, non-cyclic neutropenia, recurrent sinopulmonary infections, pachyonychia, and palmo-plantar hyperkeratosis. Mutations in the C16orf57 gene, which is located on chromosome 16q13, have been identified as the cause of PN. PN was first described by Clericuzio in Navajo Indians. Herein, we reported the clinical presentations and laboratory investigations of PN in three siblings from Turkey. The older siblings presented with typical cutaneous poikiloderma, plantar keratoderma, pachyonychia of toenails, and recurrent upper respiratory infections. As the most affected patient, in addition to classic manifestations, the youngest sibling had recurrent pneumonia, hepatosplenomegaly, dental caries, failure to thrive, and hand malformation. Genetic study revealed a homozygous mutation (c.531delA) in the C16orf57 gene in siblings. With the presented study, we aimed to draw attention to PN which can be a predisposing factor to malignancies.
- Published
- 2015
16. The association of forced expiratory volume in one second and forced expiratory flow at 50% of the vital capacity, peak expiratory flow parameters, and blood eosinophil counts in exercise-induced bronchospasm in children with mild asthma.
- Author
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Akar HH, Tahan F, and Gungor HE
- Abstract
Background: Exercise-induced bronchoconstriction (EIB), which describes acute airway narrowing that occurs as a result of exercise, is associated with eosinophilic airway inflammation, bronchial hyperresponsiveness. The forced expiratory volume in one second (FEV1) is the most commonly used spirometric test in the diagnosis of EIB in exercise challenge in asthma. Other parameters such as forced expiratory flow at 50% of the vital capacity (FEF50%) and peak expiratory flow (PEF) are used less often in the diagnosis of EIB., Objective: The purpose of this study is to evaluate the association of FEV1 and FEF50%, PEF parameters, blood eosinophil counts in EIB in children with mild asthma., Methods: Sixty-seven children (male: 39, female: 28) with mild asthma were included in this study. Pulmonary functions were assessed before and at 1, 5, 10, 15, and 20 minutes after exercise. The values of spirometric FEV1, FEF50%, PEF, and blood eosinophil counts were evaluated in EIB in children with mild asthma., Results: There was a positive correlation between FEV1 with FEF50% and PEF values (p<0.05; FEF50%, r=0.68; PEF, r=0.65). Also, a positive correlation was found between blood eosinophil counts and the values of spirometric FEV1, FEF50%, and PEF (p<0.05; FEV1, r=0.54; FEF50%, r=0.42; PEF, r=0.26). In addition to these correlations, in the exercise negative group for FEV1, the FEF50% and PEF values decreased more than the cutoff values in 3, and 2 patients, respectively., Conclusion: According to the presented study, eosinophil may play a major role in the severity of EIB in mild asthma. FEF50% and PEF values can decrease in response to exercise without changes in FEV1 in mild asthmatic patients.
- Published
- 2015
- Full Text
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17. Eosinophilic esophagitis in a girl with pollen allergy who showed trachealization.
- Author
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Akar HH, Sevinc E, Akgun H, Özcan SS, Arslan D, and Tahan F
- Subjects
- Child, Female, Humans, Eosinophilic Esophagitis complications, Rhinitis, Allergic, Seasonal complications, Tracheal Diseases etiology
- Published
- 2015
- Full Text
- View/download PDF
18. A selective IgA deficiency in a boy who presented recurrent parotitis.
- Author
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Akar HH, Patıroglu T, and Duman L
- Abstract
Recurrent parotitis is a non-obstructive, non-suppurative inflammatory disease which is characterized by unilateral or bilateral parotid gland swelling attacks. It is also known as juvenile recurrent parotitis. Although the etiology is unknown, congenital malformations of the ductus, genetic predisposition, infections, allergies, autoimmune diseases, and some immune deficiencies are blamed. Here, we present a case report of recurrent parotitis with selective immunoglobulin A deficiency in a six-year-old boy. The patient was presented to us with a new episode of swelling of left parotid region. In the last 2 years, the patient suffered from recurrent parotitis which lasted for approximately 5 days in ten individual episodes.
- Published
- 2014
- Full Text
- View/download PDF
19. Congenital IL-12R1β receptor deficiency and thrombophilia in a girl homozygous for an IL12RB1 mutation and compound heterozygous for MTFHR mutations: A case report and literature review.
- Author
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Akar HH, Kose M, Ceylan O, Patiroglu T, Bustamante J, Casanova JL, Akyildiz BN, and Doganay S
- Abstract
Interleukin-12 (IL-12) plays an important role in the production of interferon gamma from T cells and natural killer cells and is essential for protection against intra-macrophagic pathogens such as Mycobacterium and Salmonella. Here, we describe a 16-year-old girl with homozygous mutation in exon 12 of the IL12RB1 gene, which causes complete IL-12Rβ1 deficiency in association with heterozygous mutation (C677T and A1298C) in the methylenetetrahydrofolate reductase gene. She presented with disseminated Mycobacterium tuberculosis complex infection, retroperitoneal fungal abscess and also thrombosis in the superior mesenteric-portal vein junction. This is the first case report of a primary immunodeficiency associated with a genetically determined venous thrombosis.
- Published
- 2014
- Full Text
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