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 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.