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Published in 2022 at "Allergologia et immunopathologia"
DOI: 10.15586/aei.v50i6.529
Abstract: INTRODUCTION AND OBJECTIVES Omenn syndrome (OS) is a very rare type of severe combined immunodeficiencies manifested with erythroderma, eosinophilia, hepatosplenomegaly, lymph-adenopathy, and elevated level of serum IgE. OS is inherited with an autosomal recessive mode…
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Keywords:
omenn syndrome;
whole exome;
rag1;
sequencing identified ... See more keywords