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    Home > Active Ingredient News > Study of Nervous System > JCI: Children with complete IRF8 deficiency are susceptible to alveolar proteinosis and multiple infectious diseases

    JCI: Children with complete IRF8 deficiency are susceptible to alveolar proteinosis and multiple infectious diseases

    • Last Update: 2022-04-24
    • Source: Internet
    • Author: User
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    Background: Interferon regulatory factor 8 (IRF8) is a transcription factor that controls not only the development and function of mammalian myeloid hematopoietic cells, but also their function, including their response to interferon-gamma (interferon-gamma) react


    Interferon regulatory factor 8 (IRF8) is a transcription factor that controls not only the development and function of mammalian myeloid hematopoietic cells, but also their function, including their response to interferon-gamma (interferon-gamma)


    Results: The patient was born and lived in Argentina


    Figure 1.


    Figure 1.


    Figure 2 Peripheral blood leukocyte, hemoglobin, and platelet counts and functions


    Figure 2 Peripheral blood leukocyte, hemoglobin, and platelet counts and functions


    Table 1 Immunophenotypes of different immune cell subsets in peripheral blood of patients

     

    Conclusions: We describe 4 patients with AR complete IRF8 deficiency


    We describe 4 patients with AR complete IRF8 deficiency


    Jérémie Rosain, Andrea Bernasconi, Emma Prieto, et al.
    Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency.
    Journal of Clinical Immunology March 2022.
    Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency.


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