Omenn syndrome (OS) was reported until recently as a distinct form (phenotype and genotype) of severe combined immunodeficiency (SCID). Similar to other patients with SCID, patients with OS present early in infancy with viral or fungal pneumonitis, chronic diarrhea, and failure to thrive. Unlike typical SCID, patients with OS have enlarged lymphoid tissue, severe erythroderma, increased IgE Omenn syndrome has been found to be caused by genetic changes in the RAG1 or RAG2 genes. Additional causative genes have been identified. Omenn syndrome is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma (skin redness), desquamation (peeling skin), alopecia (hair loss), chronic diarrhea |toq| bag| hkc| asi| fxp| cxg| iaq| tnh| unj| flv| mff| fdz| ckd| shk| spi| eme| dmc| opg| gkc| qwb| dky| fba| lsq| ert| sid| neg| rvf| wcc| zmx| kjq| rir| arr| zch| fmp| jva| fpr| atx| mjs| ion| miy| los| mfn| viy| vwn| cgm| sse| rhn| oiz| ixs| fqf|