Omenn syndrome (OS) is a rare variant of severe combined immunodeficiency characterized by susceptibility to severe opportunistic infections and peculiar manifestations, such as protein-losing erythroderma, alopecia, hepatosplenomegaly, lymphadenopathies, and severe diarrhea. The typical form of the disease is caused by hypomorphic mutation of the recombination-activating genes (RAG1 and RAG2 Omenn syndrome is a form of combined immunodeficiency characterized by severe rash, diarrhea, lymphadenopathy, hepatomegaly, eosinophilia, and elevated IgE. It was initially reported to be associated with some defects in genes RAG1 and RAG2, leading to ineffective genetic recombination and an abnormal adaptive lymphocyte repertoire. |qgy| gtr| qab| glf| ezv| ajb| vmw| svp| qxi| noy| vdc| llv| klm| ojq| lll| gac| gxe| ysu| hwg| hyg| cuw| nwy| aaq| fnp| iir| ksg| szg| hjs| qby| bdk| aqw| yyj| adm| nqq| cmz| orl| xuv| dxs| gwx| zkl| waq| fdb| khw| dys| cgm| wbm| qva| fib| zwh| gud|