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.
Ali Pourvali; Saba Arshi; Mohammad Nabavi; Mohammad Hasan Bemanian; Sima Shokri; Mohammad Shahrooei; Nima Rezaei; Morteza Fallahpour
Abstract
Severe Combined Immunodeficiency (SCID), characterized by a profound decrease in both the number and function of T cells, is related to more than 20 different mutations. Recombination-activating gene (RAG) 1 and 2 seem to be two of the most common forms presenting with various manifestations, ...
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Severe Combined Immunodeficiency (SCID), characterized by a profound decrease in both the number and function of T cells, is related to more than 20 different mutations. Recombination-activating gene (RAG) 1 and 2 seem to be two of the most common forms presenting with various manifestations, including typical SCID, Omenn syndrome (OS), atypical SCID (AS), or delayed onset combined immunodeficiency with granulomas. One interesting manifestation in RAG mutation is the change in the immunophenotype over time, even after hematopoietic stem cell transplantation (HSCT). As bone marrow transplantation (BMT) is the only curative treatment of SCID, it is necessary to differentiate between SCID and OS due to the different conditioning regimens (CR). We present a novel case of atypical SCID (SCID manifestations with more than 300 CD3+T cells) caused by RAG 2 gene mutation whose immunophenotype changed to atypical Omenn syndrome (all Omenn syndrome manifestations except rash, eosinophilia, and elevated IgE) over time.Differentiation of leaky SCID, SCID and Omenn syndrome in RAG mutation genes and overlap manifestations is important in treatment plan and prognosis.
