Person: ÖZEN, AHMET OĞUZHAN
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ÖZEN
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AHMET OĞUZHAN
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Publication Open Access Expanding the clinical and immunological phenotypes and natural history of MALT1 deficiency(2022-04-01) KOLUKISA, BURCU; BARIŞ, SAFA; ÖZEN, AHMET OĞUZHAN; AYDINER, ELİF; Sefer A. P., Abolhassani H., Ober F., KAYAOĞLU B., Eltan S. B., Kara A., ERMAN B., Yilmaz N. S., Aydogmus C., Aydemir S., et al.Purpose MALT1 deficiency is a combined immune deficiency characterized by recurrent infections, eczema, chronic diarrhea, and failure to thrive. Clinical and immunological characterizations of the disease have not been previously reported in large cohorts. We sought to determine the clinical, immunological, genetic features, and the natural history of MALT-1 deficiency. Methods The clinical findings and treatment outcomes were evaluated in nine new MALT1-deficient patients. Peripheral lymphocyte subset analyses, cytokine secretion, and proliferation assays were performed. We also analyzed ten previously reported patients to comprehensively evaluate genotype/phenotype correlation. Results The mean age of patients and disease onset were 33 +/- 17 and 1.6 +/- 0.7 months, respectively. The main clinical findings of the disease were recurrent infections (100%), skin involvement (100%), failure to thrive (100%), oral lesions (67%), chronic diarrhea (56%), and autoimmunity (44%). Eosinophilia and high IgE were observed in six (67%) and two (22%) patients, respectively. The majority of patients had normal T and NK cells, while eight (89%) exhibited reduced B cells. Immunoglobulin replacement and antibiotics prophylaxis were mostly ineffective in reducing the frequency of infections and other complications. One patient received hematopoietic stem cell transplantation (HSCT) and five patients died as a complication of life-threatening infections. Analyzing this cohort with reported patients revealed overall survival in 58% (11/19), which was higher in patients who underwent HSCT (P = 0.03). Conclusion This cohort provides the largest analysis for clinical and immunological features of MALT1 deficiency. HSCT should be offered as a curative therapeutic option for all patients at the early stage of life.Publication Metadata only A set of clinical and laboratory markers differentiates hyper-IgE syndrome from severe atopic dermatitis(ACADEMIC PRESS INC ELSEVIER SCIENCE, 2021) ÖZEN, AHMET OĞUZHAN; Kasap, Nurhan; Celik, Velat; Isik, Sakine; Cennetoglu, Pakize; Kiykim, Ayca; Eltan, Sevgi Bilgic; Nain, Ercan; Ogulur, Ismail; Baser, Dilek; Akkelle, Emre; Celiksoy, Mehmet Halil; Kocamis, Burcu; Cipe, Funda Erol; Deniz, Ayse; Karakoc-Aydiner, Elif; Ozen, Ahmet; Baris, SafaHyper-IgE syndrome (HIES) patients may share many features observed in severe atopic dermatitis (SAD), making a diagnostic dilemma for physicians. Determining clinical and laboratory markers that distinguish both disorders could provide early diagnosis and treatment. We analyzed patients (DOCK8 deficiency:14, STAT3-HIES:10, SAD:10) with early-onset SAD. Recurrent upper respiratory tract infection and pneumonia were significantly frequent in HIES than SAD patients. Characteristic facial appearance, retained primary teeth, skin abscess, newborn rash, and pneumatocele were more predictable for STAT3-HIES, while mucocutaneous candidiasis and Herpes infection were common in DOCK8 deficiency, which were unusual in SAD group. DOCK8-deficient patients had lower CD3(+) and CD4(+)T cells with a senescent phenotype that unique for this form of HIES. Both DOCK8 deficiency and STAT3-HIES patients exhibited reduced switched memory B cells compared to the SAD patients. These clinical and laboratory markers are helpful to differentiate HIES from SAD patients.Publication Metadata only Adverse covid outcomes in youngsters with immune deficiencies; inequality exists between subclasses(2021-08-01) KOLUKISA, BURCU; KEPENEKLİ KADAYİFCİ, EDA; ÖZEN, AHMET OĞUZHAN; BARIŞ, SAFA; AYDINER, ELİF; AYDINER E., Eltan S. B., Babayeva R., Aydiner O., KEPENEKLİ KADAYİFCİ E., KOLUKISA B., Sefer A. P., Gungoren E. Y., Karabiber E., YÜCEL E., et al.Publication Metadata only Parents of ataxia-telangiectasia patients display a distinct cellular immune phenotype mimickingATM-mutated patients(WILEY, 2021) ÖZEN, AHMET OĞUZHAN; Ogulur, Ismail; Ertuzun, Tugce; Kocamis, Burcu; Kendir Demirkol, Yasemin; Uyar, Emel; Kiykim, Ayca; Baser, Dilek; Yesil, Gozde; Akturk, Hacer; Somer, Ayper; Ozen, Ahmet; Karakoc-Aydiner, Elif; Muftuoglu, Meltem; Baris, SafaBackground Heterozygous relatives of ataxia-telangiectasia (AT) patients are at an increased risk for certain AT-related manifestations. We also show that there is an increase of infection frequency in parents of AT patients. Thus, we hypothesized that the parents might exhibit immune alterations similar to their affected children. Methods Lymphocyte phenotyping to enumerate T- and B-cell subsets was performed. Functional analyses included in vitro quantified gamma-H2AX, poly (ADP-ribose) polymerase (PARP) and caspase-9 proteins. Chromosomal instability was determined by comet assay. Results We analyzed 20 AT patients (14F/6M), 31 parents (16F/15M), and 35 age-matched healthy controls. The AT patients' parents exhibited low frequency of naive CD4(+)T- (n = 14, 45%) and recent thymic emigrants (n = 11, 35%) in comparison with the age-matched healthy donors. Interestingly, parents with low naive T cells also demonstrated high rate of recurrent infections (9/14, 64%). In comparison with age-matched controls, parents who had recurrent infections and low naive T cells showed significantly higher baseline gamma-H2AX levels and H2O2-induced DNA damage as well as increased cleaved caspase-9 and PARP proteins. Conclusion Parents of AT patients could present with recurrent infections and display cellular defects that mimic AT patients. The observed immunological changes could be associated with increased DNA double-strand breaks.Publication Metadata only Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency(SPRINGER/PLENUM PUBLISHERS, 2022) ÖZEN, AHMET OĞUZHAN; Sefer, Asena Pinar; Abolhassani, Hassan; Ober, Franziska; Kayaoglu, Basak; Eltan, Sevgi Bilgic; Kara, Altan; Erman, Baran; Yilmaz, Naz Surucu; Aydogmus, Cigdem; Aydemir, Sezin; Charbonnier, Louis-Marie; Kolukisa, Burcu; Azizi, Gholamreza; Delavari, Samaneh; Momen, Tooba; Aliyeva, Simuzar; Demirkol, Yasemin Kendir; Tekin, Saban; Kiykim, Ayca; Baser, Omer Faruk; Cokugras, Haluk; Gursel, Mayda; Karakoc-Aydiner, Elif; Ozen, Ahmet; Krappmann, Daniel; Chatila, Talal A.; Rezaei, Nima; Baris, SafaPurpose MALT1 deficiency is a combined immune deficiency characterized by recurrent infections, eczema, chronic diarrhea, and failure to thrive. Clinical and immunological characterizations of the disease have not been previously reported in large cohorts. We sought to determine the clinical, immunological, genetic features, and the natural history of MALT-1 deficiency. Methods The clinical findings and treatment outcomes were evaluated in nine new MALT1-deficient patients. Peripheral lymphocyte subset analyses, cytokine secretion, and proliferation assays were performed. We also analyzed ten previously reported patients to comprehensively evaluate genotype/phenotype correlation. Results The mean age of patients and disease onset were 33 +/- 17 and 1.6 +/- 0.7 months, respectively. The main clinical findings of the disease were recurrent infections (100%), skin involvement (100%), failure to thrive (100%), oral lesions (67%), chronic diarrhea (56%), and autoimmunity (44%). Eosinophilia and high IgE were observed in six (67%) and two (22%) patients, respectively. The majority of patients had normal T and NK cells, while eight (89%) exhibited reduced B cells. Immunoglobulin replacement and antibiotics prophylaxis were mostly ineffective in reducing the frequency of infections and other complications. One patient received hematopoietic stem cell transplantation (HSCT) and five patients died as a complication of life-threatening infections. Analyzing this cohort with reported patients revealed overall survival in 58% (11/19), which was higher in patients who underwent HSCT (P = 0.03). Conclusion This cohort provides the largest analysis for clinical and immunological features of MALT1 deficiency. HSCT should be offered as a curative therapeutic option for all patients at the early stage of life.Publication Open Access Adverse COVID-19 outcomes in immune deficiencies: Inequality exists between subclasses(WILEY, 2022-01) ÖZEN, AHMET OĞUZHAN; Aydiner, Elif Karakoc; Eltan, Sevgi Bilgic; Babayeva, Royale; Aydiner, Omer; Kepenekli, Eda; Kolukisa, Burcu; Sefer, Asena Pinar; Gungoren, Ezgi Yalcin; Karabiber, Esra; Yucel, Esra Ozek; Ozdemir, Oner; Kiykim, Ayca; Artac, Hasibe; Yakici, Nalan; Yalcin, Koray; Cokugras, Haluk; Celkan, Tulin Tiraje; Orhan, Fazil; Yesilipek, Mehmet Akif; Baris, Safa; Ozen, AhmetBackground Genetic deficiencies of immune system, referred to as inborn errors of immunity (IEI), serve as a valuable model to study human immune responses. In a multicenter prospective cohort, we evaluated the outcome of SARS-CoV-2 infection among IEI subjects and analyzed genetic and immune characteristics that determine adverse COVID-19 outcomes. Methods We studied 34 IEI patients (19M/15F, 12 [min: 0.6-max: 43] years) from six centers. We diagnosed COVID-19 infection by finding a positive SARS-CoV-2 PCR test (n = 25) and/or a lung tomography scoring (CORADS) >= 4 (n = 9). We recorded clinical and laboratory findings prospectively, fitted survival curves, and calculated fatality rates for the entire group and each IEI subclass. Results Nineteen patients had combined immune deficiency (CID), six with predominantly antibody deficiency (PAD), six immune dysregulation (ID), two innate immune defects, and one in the autoinflammatory class. Overall, 23.5% of cases died, with disproportionate fatality rates among different IEI categories. PAD group had a relatively favorable outcome at any age, but CIDs and IDs were particularly vulnerable. At admission, presence of dyspnea was an independent risk for COVID-related death (OR: 2.630, 95% CI; 1.198-5.776, p < .001). Concerning predictive roles of laboratory markers at admission, deceased subjects compared to survived had significantly higher CRP, procalcitonin, Troponin-T, ferritin, and total-lung-score (p = .020, p = .003, p = .014, p = .013, p = .020; respectively), and lower absolute lymphocyte count, albumin, and trough IgG (p = .012, p = .022, p = .011; respectively). Conclusion Our data disclose a highly vulnerable IEI subgroup particularly disadvantaged for COVID-19 despite their youth. Future studies should address this vulnerability and consider giving priority to these subjects in SARS-Cov-2 therapy trials.Publication Open Access Expanding the clinical and immunological phenotypes and natural history of MALT1 deficiency(2022-04-01) KOLUKISA, BURCU; ÖZEN, AHMET OĞUZHAN; BARIŞ, SAFA; Sefer A. P., Abolhassani H., KAYAOĞLU B., Ober F., Bilgic-Eltan S., Kara A., ERMAN B., Surucu-Yilmaz N., Aydogmus C., AYDEMİR S., et al.Purpose MALT1 defciency is a combined immune defciency characterized by recurrent infections, eczema, chronic diarrhea, and failure to thrive. Clinical and immunological characterizations of the disease have not been previously reported in large cohorts. We sought to determine the clinical, immunological, genetic features, and the natural history of MALT-1 defciency. Methods The clinical fndings and treatment outcomes were evaluated in nine new MALT1-defcient patients. Peripheral lymphocyte subset analyses, cytokine secretion, and proliferation assays were performed. We also analyzed ten previously reported patients to comprehensively evaluate genotype/phenotype correlation. Results The mean age of patients and disease onset were 33±17 and 1.6±0.7 months, respectively. The main clinical fndings of the disease were recurrent infections (100%), skin involvement (100%), failure to thrive (100%), oral lesions (67%), chronic diarrhea (56%), and autoimmunity (44%). Eosinophilia and high IgE were observed in six (67%) and two (22%) patients, respectively. The majority of patients had normal T and NK cells, while eight (89%) exhibited reduced B cells. Immunoglobulin replacement and antibiotics prophylaxis were mostly inefective in reducing the frequency of infections and other complications. One patient received hematopoietic stem cell transplantation (HSCT) and fve patients died as a complication of life-threatening infections. Analyzing this cohort with reported patients revealed overall survival in 58% (11/19), which was higher in patients who underwent HSCT (P=0.03). Conclusion This cohort provides the largest analysis for clinical and immunological features of MALT1 defciency. HSCT should be ofered as a curative therapeutic option for all patients at the early stage of life. Keywords Inborn errors of immunity · primary immunodefciency · MALT1 · combined immune defciency · immune dysregulation · recurrent infections · skin involvement · failure to thrive · hematopoietic stem cell transplantation