Mohammad Hasan Bemanian; Sima Bahrami; Saba Arshi; Afshin Rezaeifar; Mohammad Nabavi; Morteza Fallahpour; Sima Shokri
Abstract
Immunoglobulin G4-Related Disease (IgG4-RD) is a systemic fibro-inflammatory disease that has been proposed as a separate entity since thebeginning of this century. The disease is often manifested by increasedserum IgG4 levels and certain histopathological manifestations. The patientmentioned in this ...
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Immunoglobulin G4-Related Disease (IgG4-RD) is a systemic fibro-inflammatory disease that has been proposed as a separate entity since thebeginning of this century. The disease is often manifested by increasedserum IgG4 levels and certain histopathological manifestations. The patientmentioned in this article is a 29-year-old man from Tajikistan, who has had achronic cough since the beginning of 2018 without a previous history of thedisease. At first, he was diagnosed with pneumonia for a long time and thenunderwent a lung biopsy due to exacerbation of symptoms and the spreadof lung lesions in radiology but no abnormalities were found in theseevaluations. The patient traveled to Iran to continue his treatment. He wasre-evaluated and then the previous samples taken from the patient's lungtissue were re-examined. There were key findings in favor of diagnosingIgG4 RD. Evaluations did not confirm the involvement of other organs. Hewas first treated with steroids and due to recurrence of symptoms, he wastreated with rituximab once which was significantly effective in improving thepatient's clinical symptoms. In general, it can be concluded that thediagnosis of IgG4-RD is very challenging and if it has not been diagnosedand treated in time, it can lead to irreversible fibrosis and permanent loss offunction of the involved organ.
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.