Author/Editor     Kitanovski, L
Title     A unique case of atypical Omenn syndrome with disseminated CMV nifection and fatal immune haemolytic anaemia with a review of similar cases
Translated title     Prikaz primera edinstvenega primera netipičnega sindroma Omenn z diseminirano okužbo s CMV in smrtno imunsko hemolitično anemijo in pregled podobnih primerov
Type     članek
Source     Slov Pediatr
Vol. and No.     Letnik 15, št. 1
Publication year     2008
Volume     str. 58-66
Language     eng
Abstract     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.
Descriptors     CYTOMEGALOVIRUS INFECTIONS
ANEMIA, HEMOLYTIC, CONGENITAL
EOSINOPHILIA
LYMPHOPENIA
GENES, RAG-1
INFANT, NEWBORN
MUTATION