Bi-allelic IRF8 mutation: a complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia and immune dysregulation
نویسندگان
چکیده
Venetia Bigley, MD PhD, Sheetal Maisuria, MSc, Urszula Cytlak, PhD, Laura Jardine, MD, Matthew A. Care, PhD, Kile Green, MSc, Merry Gunawan, PhD, Paul Milne, PhD, Rachel Dickinson, PhD, Sarah Wiscombe, MD, David Parry, PhD, Rainer Doffinger, MD PhD, Arian Laurence, MD PhD, Claudia Fonseca Lic, Oda Stoevesandt, PhD, Andrew Gennery, MD PhD, Andrew Cant, MD PhD, Reuben Tooze, MD PhD, A John Simpson, MD PhD, Sophie Hambleton, MD PhD, Sinisa Savic, MD PhD, Gina Doody, PhD, Matthew Collin, MD PhD
منابع مشابه
Dendritic cell analysis in primary immunodeficiency
PURPOSE OF REVIEW Dendritic cells are specialized antigen-presenting cells which link innate and adaptive immunity, through recognition and presentation of antigen to T cells. Although the importance of dendritic cells has been demonstrated in many animal models, their contribution to human immunity remains relatively unexplored in vivo.Given their central role in infection, autoimmunity, and m...
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Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC syndrome (Monocytopenia and Mycobacterium avium complex infections), DCML (dendritic cell, monocyte, and lymphocyte deficiency), familial MDS/AML (myelodysplastic syndrome/acute myeloid leukemia) (myeloid neoplasms), congenital neutropenia, congenital lymphedema (Emberger's syndrome), sensorineura...
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Heterozygous mutations in GATA2 underlie different syndromes, previously described as monocytopenia and mycobacterial avium complex infection (MonoMAC); dendritic cell, monocytes, B- and NK lymphocytes deficiency (DCML); lymphedema, deafness and myelodysplasia (Emberger syndrome) and familiar myelodysplastic syndrome/acute myeloid leukemia (MDS / AML). Onset and severity of clinical symptoms va...
متن کاملIRF8 mutations and human dendritic-cell immunodeficiency.
BACKGROUND The genetic analysis of human primary immunodeficiencies has defined the contribution of specific cell populations and molecular pathways in the host defense against infection. Disseminated infection caused by bacille Calmette-Guérin (BCG) vaccines is an early manifestation of primary immunodeficiencies, such as severe combined immunodeficiency. In many affected persons, the cause of...
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