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  • A unique case of atypical Omenn syndrome with disseminated CMV infection and fatal immune haemolytic anaemia with a review of similar cases = Prikaz primera edinstvenega primera netipičnega sindroma Omenn z diseminirano okužbo s CMV in smrtno imunsko hemolitično anemijo in pregled podobnih primerov
    Kitanovski, Lidija
    The unique case of a 7-week-old child with 2 hypomorphic RAG1 mutations and early multivisceral, disseminated CMV infecrion is presented. Recently, CMV infection and autoimmune cytopenias have been ... described in 4 patients with hypomorphic RAG1 mutations, but these patients lacked the clinical features characteristic of OS. The laboratory and clinical manifestations in our patient were very reminiscent of those in OS. The child had severe eosinophilia, hyperIgE, severe depletion of B cells and a normal number of T cells. He presented with a skin rash, lymphadenopathy and hepatosplenomegaly, which typically appear in Omenn syndrome as a consequence of the infiltration by activated T lymphocytes, but, in our patient, most of these (except the skin rash, which was the first manifestation) were not due to autorecrive manifestations, but due to multivisceral CMV infection. The child died due to a fulminant haemolytic process in the setting of severe disseminated CMV infection. Warm autoantibodies (anti IgG in anri C3d) and plasma reactivity against red blood cells of all tested donors, especially against E and C positive red blood cells were found.
    Vir: Slovenska pediatrija : revija Združenja pediatrov Slovenije in Združenja specialistov šolske in visokošolske medicine Slovenije. - ISSN 1318-4423 (Letn. 15, [št.] 1, 2008, str. 58-66)
    Vrsta gradiva - članek, sestavni del
    Leto - 2008
    Jezik - angleški
    COBISS.SI-ID - 24522969

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