Tıp Fakültesi / Faculty of Medicine

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    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-3218-2024
    BACKGROUNDCytotoxic 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.
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    Coexistence of Tubo-Ovarian Abscess and Carcinoid Tumor of the Appendix in A Sexually Inactive Girl: A Case Report
    (2022) Acer-Demir, Tugba; Sagnak-Akilli, Muge; Guney, Lutfi Hakan; Arslan, Esra Elif; Fakioglu, Ender; https://orcid.org/0000-0001-5391-9094; https://orcid.org/0000-0002-7437-2734; E-4455-2019; AFT-2490-2022
    Background: Tubo-ovarian abscess (TOA) is mostly a sequela of pelvic inflammatory disease (PID) which is seen in sexually active women. Although very rare, TOA could be seen in virgin adolescent girls. Fifteen cases of TOA were reported in virgin girls in English literature. Only one of these cases was suspected to be due to appendicitis. Herein, we present the first case of coexistence of tubo-ovarian abscess and carcinoid tumor of the appendix in a sexually inactive girl. Case presentation: A 13-year-old girl presented with abdominal pain and fever. Ultrasonography reported that there was a 63x48 mm sized, heterogeneous, thick-walled, dense-content complicated cyst in the right ovary which was thought to be a hemorrhagic cyst and a tubular structure, measuring 12 mm in its thickest part which was thought to be the appendix. During the operation, a TOA was observed in the right adnexal region. The thick, edematous appendix which was lying separately was excised. The TOA was evacuated; a drain was placed. The appendix pathology was reported as "carcinoid tumor. " Conclusion: We present the first case of TAO with carcinoid tumor of appendix and the second case of TAO that was suspected to be due to appendicitis. When the sexually inactive TOA cases including our case were reviewed, we found that the median age was 15 years (12-47 years) and 11 of 16 cases (69%) were under 18 years of age. The presenting symptoms were abdominal or pelvic pain in all cases, fever in 11 cases (69%), vomiting in 6 cases (38%), dysuria in 5 cases (31%), and diarrhea in 3 cases (19%). Both perforated appendicitis and TOA patients have the same clinic presentation such as fever, abdominal tenderness, increased leukocyte count, increased inflammatory markers. The differential diagnosis can be achieved by radiological examinations such as ultrasonography, computerized tomography or magnetic resonance imaging.