Fatemeh Zaremehrjardi; Leila Baniadam; Farhad Seif; Saba Arshi; Mohamad Hasan Bemanian; Sima Shokri; Afshin Rezaeifar; Morteza Fallahpour; Mohammad Nabavi
Abstract
Increased susceptibility to autoimmunity, malignancy, and allergy in addition to recurrent infections are the main characteristics suggesting for the primary immunodeficiency diseases (PID). CTLA-4 is predominantly expressed on activated and regulatory T-cells, which can bind to CD80/CD86 molecules on ...
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Increased susceptibility to autoimmunity, malignancy, and allergy in addition to recurrent infections are the main characteristics suggesting for the primary immunodeficiency diseases (PID). CTLA-4 is predominantly expressed on activated and regulatory T-cells, which can bind to CD80/CD86 molecules on antigen-presenting cells as a negative regulator. Here, we describe a 24-year-old male born from consanguineous parents with heterozygous CTLA-4 mutation who presented with multiple autoimmune diseases. His past clinical history revealed alopecia areata atfour years old and subsequently, he developed Evans syndrome, type 1 diabetes mellitus, hypothyroidism, and chronic diarrhea while chronic rhinosinusitis and cytomegalovirus (CMV) colitis were the only infectious manifestations. Immunologic investigations revealed: low B cell count, abnormal Lymphocyte transformation test (LTT) to phytohemagglutinin (PHA), and hypogammaglobulinemia. Although all available treatments such as Intravenous Immunoglobulin (IVIG) therapy, immunosuppressive drugs, and antibiotic therapy were applied, diarrhea was not controlled due to colitis, which remained challenging. Whole exome sequencing was performed and the result showed heterozygous variant CHR2.204,735,635 G>A in the CTLA-4 gene, which was confirmed by the Sanger method. CTLA4 haploinsufficiency leads to autoimmune disorders, recurrent respiratory infections, hypogammaglobulinemia, lymphoproliferation with organ infiltration, and lymphocytic interstitial lung disease.
Luoya Ling; Youqing Wang; Ye Ding; Lin Zheng; Xiaohua Qi; Mingjuan Jin; Kun Chen; Shuyun Xie
Volume 12, Issue 1 , March 2015, , Pages 70-73
Abstract
Background: Bacillus Calmette-Guérin (BCG) vaccination is recommended for newborn infants worldwide to prevent tuberculosis. However, complications do occur inevitably in a very low rate, among which the most serious is disseminated disease. The disseminated bacillus Calmette–Guérin ...
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Background: Bacillus Calmette-Guérin (BCG) vaccination is recommended for newborn infants worldwide to prevent tuberculosis. However, complications do occur inevitably in a very low rate, among which the most serious is disseminated disease. The disseminated bacillus Calmette–Guérin disease is a rare disease with high fatality, and can be seen among persons with an underlying immunodeficiency. Case presentation: We report a 4-month-old male infant presenting with recurrent fever, an isolated left axillary massand swelling at the site of BCG inoculation. The cellular immune function analysis showed that the value of CD4/CD8 was 0.994, indicating the existence of immunodeficiency.The results of blood culture and throat swab culture showed conditional pathogen infection. He died of cardiopulmonary failure. Conclusion: In this case, necropsy played a significant role in the final diagnosis of disseminated pulmonary tuberculosis.
