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INTRODUCTION: Gastrointestinal tuberculosis (TB) is a rare condition, but it poses significant diagnostic and management challenges, especially in immunocompromised individuals. This case report discusses the diagnostic complexities and therapeutic strategies for managing gastrointestinal TB in an HIV-positive patient, emphasizing the importance of considering TB in differential diagnoses. CASE PRESENTATION: A 33-year-old male with no significant medical history presented with a five-day history of severe abdominal pain, initially epigastric and later localized to the right lower quadrant (RLQ). Physical examination revealed RLQ tenderness, and elevated inflammatory markers were observed in laboratory tests. Imaging studies suggested splenomegaly and signs consistent with acute appendicitis. Laparotomy uncovered a perforated cecal mass and diffuse white lesions across the small intestine. Histopathological analysis confirmed necrotizing granulomatous colitis, and PCR identified Mycobacterium tuberculosis (MTB). During hospitalization, the patient was diagnosed with HIV. CLINICAL DISCUSSION: This case underscores the diagnostic challenge of abdominal TB, particularly in HIV-infected patients where clinical presentation can mimic other conditions like Crohn's disease or appendicitis. Effective management requires timely surgical intervention, followed by appropriate anti-tuberculous and antiretroviral therapies. The multidisciplinary approach ensures comprehensive care and better patient outcomes. CONCLUSION: Effective recognition and diagnosis of gastrointestinal TB in HIV-positive patients are critical for successful treatment. This report highlights the necessity for heightened clinical suspicion and a collaborative approach in managing such complex cases, ultimately improving patient prognosis and care.
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PURPOSE: Primary B cell defects manifesting as predominantly antibody deficiencies result from variable inborn errors of the B cell lineage and their development, including impairments in early bone marrow development, class switch recombination (CSR), or terminal B cell differentiation. In this study, we aimed to investigate autoimmunity in monogenic patients with B cell development and differentiation defects. METHODS: Patients with known genetic defects in the B cell development and differentiation were recruited from the Iranian inborn errors of immunity registry. RESULTS: A total of 393 patients with a known genetic defect in the B cell development and differentiation (257 males; 65.4%) with a median age of 12 (6-20) years were enrolled in this study. After categorizing patients, 109 patients had intrinsic B cell defects. More than half of the patients had defects in one of the ATM (85 patients), BTK (76 patients), LRBA (34 patients), and DOCK8 (33 patients) genes. Fifteen patients (3.8%) showed autoimmune complications as their first manifestation. During the course of the disease, autoimmunity was reported in 81 (20.6%) patients at a median age of 4 (2-7) years, among which 65 patients had mixed intrinsic and extrinsic and 16 had intrinsic B cell defects. The comparison between patients with the mentioned four main gene defects showed that the patient group with LRBA defect had a significantly higher frequency of autoimmunity compared to those with other gene defects. Based on the B cell defect stage, 13% of patients with early B cell defect, 17% of patients with CSR defect, and 40% of patients who had terminal B cell defect presented at least one type of autoimmunity. CONCLUSION: Our results demonstrated that gene mutations involved in human B cell terminal stage development mainly LRBA gene defect have the highest association with autoimmunity.
