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  1. Article: A rare case of combined immunodeficiency with cytopenia whose symptoms were controlled by cyclosporine.

    Narges, Bazgir / Shabnam, Eskandarzadeh / Golnaz, Eslamian / Zahra, Chavoshzadeh / Jaffer, Shah / Shohra, Qaderi

    Oxford medical case reports

    2022  Volume 2022, Issue 5, Page(s) omac055

    Abstract: Combined Immunodeficiency (CID) is a group of inborn error of Immunity (IEI) that may present with both infectious and non-infectious complications. Autoimmunity is an unusual presentation of CID and can be presented as cytopenia. The initial management ... ...

    Abstract Combined Immunodeficiency (CID) is a group of inborn error of Immunity (IEI) that may present with both infectious and non-infectious complications. Autoimmunity is an unusual presentation of CID and can be presented as cytopenia. The initial management of cytopenia is corticosteroids and IVIG. The role of other cytotoxic and immunosuppressive drugs in management of cytopenia is not fully understood. The objective of this clinical case report is to highlight the possibly beneficial role of cyclosporine in controlling cytopenia in CID patients. A 26-month-old child with generalized ecchymosis was referred to Mofid Children's Hospital in Tehran, Iran. Physical examination revealed no substantial findings other than ecchymosis, and complete blood count (CBC) revealed thrombocytopenia. Diagnosis of CID and cytopenia followed. The patient was treated by 5 times prednisolone and 4 times Rituximab. Finally, his ecchymosis was controlled by Cellcept, which was then tempered and substituted by cyclosporine.
    Language English
    Publishing date 2022-05-23
    Publishing country England
    Document type Case Reports
    ZDB-ID 2766251-2
    ISSN 2053-8855
    ISSN 2053-8855
    DOI 10.1093/omcr/omac055
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Disseminated Mycobacterium simiae Infection in a Patient with Complete IL-12p40 Deficiency

    Seyed Alireza Mahdaviani / Majid Marjani / Mahnaz Jamee / Armin Khavandegar / Hosseinali Ghaffaripour / Golnaz Eslamian / Mehdi Ghaini / Shabnam Eskandarzadeh / Jean-Laurent Casanova / Jacinta Bustamante / Davood Mansouri / Ali Akbar Velayati

    Iranian Journal of Allergy, Asthma and Immunology, Vol 20, Iss

    2021  Volume 3

    Abstract: Mendelian susceptibility to mycobacterial disease (MSMD) is a rare group of genetic disorders characterized by infections with weakly virulent environmental mycobacteria (EM) or Mycobacterium bovis bacillus Calmette-Guérin (BCG). Herein, we described the ...

    Abstract Mendelian susceptibility to mycobacterial disease (MSMD) is a rare group of genetic disorders characterized by infections with weakly virulent environmental mycobacteria (EM) or Mycobacterium bovis bacillus Calmette-Guérin (BCG). Herein, we described the case of a 4.5-year-old boy with protein-losing enteropathy, lymphoproliferation, and candidiasis, who was found to have disseminated Mycobacterium simiae infection. A homozygous mutation in the IL12B gene, c.527_528delCT (p.S176Cfs*12) was identified, responsible for the complete IL-12p40 deficiency. He was resistant to anti-mycobacterial treatment and finally died due to sepsis-related complications.
    Keywords Mycobacterium simiae ; Primary immunodeficiency ; Medicine ; R
    Language English
    Publishing date 2021-06-01T00:00:00Z
    Publisher Tehran University of Medical Sciences
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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