Tıp Fakültesi / Faculty of Medicine
Permanent URI for this collectionhttps://hdl.handle.net/11727/1403
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Item Efficacy of Abatacept Treatment in A Patient with Enteropathy Carrying A Variant of Unsignificance in CTLA4 Gene: A Case Report(2023) Musabak, Ugur; Erdogan, Tuba; Ceylaner, Serdar; Ozbek, Emre; Suna, Nuretdin; Ozdemir, Binnaz Handan; 37731560; KBC-3218-2024BACKGROUNDCytotoxic T Lymphocyte Antigen-4 (CTLA4) deficiency is a genetic defect that causes a common variable immunodeficiency (CVID) clinical phenotype. Several studies have reported an association between CTLA mutations or variants and various autoimmune diseases. Targeted therapy models, which have become increasingly popular in recent years, have been successful in treating CTLA4 deficiency. In this article, we discuss the clinical outcomes of abatacept treatment in a patient with CTLA4 and lipopolysaccharide-responsive beige-like anchor (LRBA) variants that was previously diagnosed with CVID.CASE SUMMARYA 25-year-old female patient, who was visibly cachectic, visited our clinic over the course of five years, complaining of diarrhea. The patient was diagnosed with ulcerative colitis in the centers she had visited previously, and various treatments were administered; however, clinical improvement could not be achieved. Severe hypokalemia was detected during an examination. Her serum immunoglobulin levels, CD19+ B-cell percentage, and CD4/CD8 ratio were low. An endoscopic examination revealed erosive gastritis, nodular duodenitis, and pancolitis. Histopathological findings supported the presence of immune mediated enteropathy. When the patient was examined carefully, she was diagnosed with CVID, and intravenous immunoglobulin treatment was initiated. Peroral and rectal therapeutic drugs including steroid therapy episodes were administered to treat the immune mediated enteropathy. Strict follow-ups and treatment were performed due to the hypokalemia. After conducting genetic analyses, the CTLA4 and LRBA variants were identified and abatacept treatment was initiated. With targeted therapy, the patient's clinical and laboratory findings rapidly regressed, and there was an increase in weight.CONCLUSIONThe heterozygous CTLA4 variant identified in the patient has been previously shown to be associated with various autoimmune diseases. The successful clinical outcome of abatacept treatment in this patient supports the idea that this variant plays a role in the immunopathogenesis of the disease. In the presence of severe disease, abatacept therapy should be considered until further testing can be conducted.Item Compromised T-Cell Immunity in Patients with Spinal Cord Injury and Its Relationship with Injury Characteristics(2023) Kartal, Ozgur; Yilmaz, Bilge; Gulec, Mustafa; Guzelkucuk, Umut; Tan, Arif Kenan; Sener, Osman; Musabak, Ugur; 0000-0003-1511-7634; 37201015; AAU-1810-2020Objectives: The aim of this study was to investigate in vivo and in vitro cellular immune responses in patients with chronic (spinal cord injury; SCI), determine the effects of autonomic dysfunction on cellular immune response, and determine the effect of completeness of the injury at different levels on cellular immune response. Patients and methods: Forty-nine patients (42 males, 7 females; mean age: 35.5 +/- 13.4 years; range, 18 to 68 years) with chronic (time since injury >6 months) traumatic SCI were included in this cross sectional study between March 2013 and December 2013. Patients were allocated into two groups: Group 1, patients with an injury at T7 or below, and Group 2, patients with an injury at T6 or above. All patients in Group 2 had a history of autonomic dysreflexia and orthostatic hypotension. Intradermal skin tests were applied to the participants to reveal delayed T-cell responses. The percentages of cluster of differentiation (CD)3+ T cells and CD3+ T cells expressing CD69 and CD25 were analyzed by flow cytometry for the detection of activated T cells including all T-cell subsets. Results: When patients with complete injuries were compared, the CD45+ cell percentage was found to be significantly higher in patients in Group 2. Patients with an incomplete SCI had increased skin response to candida antigens compared to complete SCI patients. Incomplete SCI patients also had higher percentages of lymphocytes and CD3+CD25+ and CD3+CD69+ T cells compared to patients with complete Conclusion: T-cell activity is impaired in chronic SCI patients with higher levels of injury, and the completeness of injury and autonomic dysfunction gain prominence as compromising factors in T-cell immunity.Item Compromised T-Cell Immunity in Patients with Spinal Cord Injury and Its Relationship with Injury Characteristics(2022) Kartal, Ozgur; Yilmaz, Bilge; Gulec, Mustafa; Guzelkucuk, Umut; Tan, Arif Kenan; Sener, Osman; Musabak, UgurObjectives: The aim of this study was to investigate in vivo and in vitro cellular immune responses in patients with chronic (spinal cord injury) SCI, determine the effects of autonomic dysfunction on cellular immune response, and determine the effect of completeness of the injury at different levels on cellular immune response. Patients and methods: Forty-nine patients (42 males, 7 females; mean age: 35.5 +/- 13.4 years; range, 18 to 68 years) with chronic (time since injury >6 months) traumatic SCI were included in this cross sectional study between March 2013 and December 2013. Patients were allocated into two groups: Group 1, patients with an injury at T7 or below, and Group 2, patients with an injury at T6 or above. All patients in Group 2 had a history of autonomic dysreflexia and orthostatic hypotension. Intradermal skin tests were applied to the participants to reveal delayed T-cell responses. The percentages of cluster of differentiation (CD)3+ T cells and CD3+ T cells expressing CD69 and CD25 were analyzed by flow cytometry for the detection of activated T cells including all T-cell subsets. Results: When patients with complete injuries were compared, the CD45+ cell percentage was found to be significantly higher in patients in Group 2. Patients with an incomplete SCI had increased skin response to candida antigens compared to complete SCI patients. Incomplete SCI patients also had higher percentages of lymphocytes and CD3+CD25+ and CD3+CD69+ T cells compared to patients with complete Conclusion: T-cell activity is impaired in chronic SCI patients with higher levels of injury, and the completeness of injury and autonomic dysfunction gain prominence as compromising factors in T-cell immunity.Item A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features(2022) Musabak, Ugur; Ceylaner, Serdar; Erdogan, Tuba; Ayva, Ebru Sebnem; 0000-0003-1511-7634; 35833092; AAU-1810-2020Hypogammaglobulinemias, based on inborn errors of immunity, are primary immunodeficiencies (PIDs) that can also be diagnosed for the first time in adulthood. Common variable immunodeficiency (CVID) is a multifactorial disease often symptomatic due to antibody deficiency. In addition, some PIDs are classified into the category of immunodeficiencies with syndromic features due to their accompanying clinical findings unrelated to immunity. In this article, a patient with CVID who was diagnosed in adulthood and who was revealed to have a mutation specific to Rubinstein-Taybi syndrome and clinical features reminiscent of this syndrome only after molecular tests was presented.Item Clinical features and immunoglobulin replacement therapy outcomes of adults with common variable immunodeficiency: a single centre experience(2021) Musabak, Ugur; Erdogan, Tuba; 0000-0002-3143-2442; 34022776; ABH-5354-2020Background/aim: Common variable immunodeficiency (CVID) characterized by defective immunoglobulin production is the most prevalent form of symptomatic primary immunodeficiency (PID) in adults. We aimed to reveal the clinical features of adults with CVID and to evaluate the effects of immunoglobulin replacement treatment (IRT) on hemato-immunological findings. Materials and methods: This study included 26 adult patients receiving IRT. Two measurements of complete blood counts and major immunoglobulin levels obtained at the beginning-end of follow up period were used for comparisons. Lymphocyte subsets and B-cell subgroups were measured only at the time of presentation. Results: The most common complications were related to respiratory and digestive systems and organomegaly. Chronic diarrhoea and low body weight were positively correlated with the percentage of CD8(+) T cells (p = 0.019 and p = 0.003, respectively) but negatively correlated with the CD4/CD8 ratio and the percentage of CD19(+) B cells (p = 0.019 and p = 0.005 for both parameters, respectively). At the end of period, the distribution of haematological parameters significantly improved, and immunoglobulin M (IgM) level increased to detectable levels (p = 0.035). Conclusions: There are apparent relationships among chronic diarrhoea and low body weight, and deterioration of T and B cell immunity in adults with CVID. IRT improves the whole blood parameters and stimulates immunoglobulin M (IgM) production. The later effect supports the immunomodulatory feature of this therapy.Item Incidence and Immunologic Analysis of Coronavirus Disease (COVID-19) in Hemodialysis Patients: A Single-Center Experience(2020) Arslan, Hande; Musabak, Ugur; Soy, Ebru H. Ayvazoglu; Azap, Ozlem Kurt; Sayin, Burak; Akcay, Sule; Haberal, K. Murat; Akdur, Aydincan; Yildirim, Sedat; Haberal, Mehmet; 0000-0001-8287-6572; 0000-0003-1511-7634; 0000-0002-5735-4315; 0000-0002-0993-9917; 0000-0002-8726-3369; 0000-0002-3171-8926; 0000-0002-8360-6459; 0000-0002-3462-7632; 0000-0002-8211-4065; 32519618; J-3707-2015; AAU-1810-2020; AAF-4610-2019; AAC-5566-2019; AAA-3068-2021; AAK-4089-2021; AAB-5175-2021; AAJ-8097-2021; R-9398-2019Objectives: COVID-19 is a great threat to the modern world and significant threat to immunocompromised patients, including patients with chronic renal failure. We evaluated COVID-19 incidence among our hemodialysis patients and investigated the most probable immune mechanisms against COVID-19. Materials and Methods: Baskent University has 21 dialysis centers across Turkey, with 2420 patients on hemodialysis and 30 on peritoneal dialysis. Among these, we retrospectively evaluated 602 patients (257 female/345 male) with chronic renal failure receiving hemodialysis as renal replacement therapy; 7 patients (1.1%) were infected with SARS-CoV-2. We retrospectively collected patient demographic characteristics, clinical data, and immunological factors affecting the clinical course of the disease. We divided patients into groups and included 2 control groups ( individuals with normal renal functions): group I included COVID-19-positive patients with normal renal function, group II included COVID-19-positive hemodialysis patients, group III included COVID-19-negative hemodialysis patients, and group IV included COVID-19-negative patients with normal renal function. Lymphocyte subsets in peripheral blood and typing of human leukocyte antigens were analyzed in all groups, with killer cell immunoglobulin-like receptor genes analyzed only in COVID-19-positive patients and healthy controls. Results: No deaths occurred among the 7 COVID-19-positive hemodialysis patients. Group I patients were significantly older than patients in groups II and III ( P = .039, P = .030, respectively) but not significantly different from group IV (P = .060). Absolute counts of natural killer cells in healthy controls were higher than in other groups (but not significantly). Activated T cells were significantly increased in both COVID-19-positive groups versus COVID-19-negative groups. Groups showed significant differences in C and DQ loci with respect to distribution of alleles in both HLA classes. Conclusions: Although immunocompromised patients are at greater risk for COVID-19, we found lower COVID-19 incidence in our hemodialysis patients, which should be further investigated in in vitro and molecular studies.Item The Role of Analysis of NK Cell Subsets in Peripheral Blood and Uterine Lavage Samples in Evaluation of Patients with Recurrent Implantation Failure(2020) Tohma, Yusuf Aytac; Musabak, Ugur; Gunakan, Emre; Akilli, Huseyin; Onalan, Gogsen; Zeyneloglu, Hulusi Bulent; 0000-0003-1511-7634; 0000-0002-0289-2642; 0000-0001-8854-8190; 32413518; AAU-1810-2020; B-6487-2009; ABI-1707-2020; AAX-3230-2020Objective: In this study, we aimed to determine the role of analyses of NK cell subsets in peripheral blood and uterine lavage samples in evaluation of patients with unexplained RIF. Methods: This retrospective single-institution case-control study included two different cohorts between 2017-2019. First cohort included patients examined with peripheral blood samples for evaluation of possible immunologic problems in patients with unexplained recurrent implantation failure; in the study period, a total of 75 consecutive patients with RIF (study group; n: 42) or infertile patients without RIF (control group; n: 33) were included. Second cohort included those patients whose uterine samples were assessed for immunologic problems; RIF (study group ; n: 16) or infertile patients without RIF (control group; n: 25). Results: In the first cohort, the percentage of NK cells (CD3-CD16(+)56(+)) is statistically significantly lower (9.8 vs. 12.6, respectively, p: 0.038) in the study group than those of the controls whereas there was no statistical significance in the absolute number of NK cells (CD3-CD16(+)56(+)). In the second cohort, the only remarkable finding in uterine lavage samples was significantly increased uNKs cells (CD3-CD16(di)(m)56(bright)) percentages in controls (9.95 vs 12.7, respectively, p: 0.026) compared to those of study group. Conclusion: Our data shows that the analysis of NK cell subtypes in peripheral blood does not seem appropriate to investigate the patients with RIF and we suggest that uterine lavage samples instead of peripheral blood samples be implemented and evaluated. (C) 2020 Elsevier Masson SAS. All rights reserved.