Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 1 de 1
Filter
Add more filters










Database
Language
Publication year range
1.
Physiol Res ; 69(5): 927-932, 2020 11 16.
Article in English | MEDLINE | ID: mdl-32901502

ABSTRACT

MEHMO syndrome is a rare X-linked syndrome characterized by Mental retardation, Epilepsy, Hypogenitalism, Microcephaly, and Obesity associated with the defect of protein synthesis caused by the EIF2S3 gene mutations. We hypothesized that the defect in protein synthesis could have an impact on the immune system. We describe immunologic phenotype and possible treatment outcomes in patient with MEHMO syndrome carrying a frame-shift mutation (I465fs) in the EIF2S3 gene. The proband (currently 9-year-old boy) had normal IgG and IgM levels, but had frequent respiratory and urinary tract infections. On subcutaneous immunoglobulin therapy achieving supra-physiological IgG levels the frequency of infections significantly decreased in Poisson regression by 54.5 % (CI 33.2-89.7, p=0.017). The MEHMO patient had had frequent acute infections despite normal IgG and IgM serum levels and responded well to the immunoglobulin treatment.


Subject(s)
Epilepsy/genetics , Epilepsy/immunology , Eukaryotic Initiation Factor-2/genetics , Genitalia/abnormalities , Hypogonadism/genetics , Hypogonadism/immunology , Mental Retardation, X-Linked/genetics , Mental Retardation, X-Linked/immunology , Microcephaly/genetics , Microcephaly/immunology , Mutation , Obesity/genetics , Obesity/immunology , Child , Epilepsy/drug therapy , Epilepsy/pathology , Genitalia/immunology , Genitalia/pathology , Humans , Hypogonadism/drug therapy , Hypogonadism/pathology , Male , Mental Retardation, X-Linked/drug therapy , Mental Retardation, X-Linked/pathology , Microcephaly/drug therapy , Microcephaly/pathology , Obesity/drug therapy , Obesity/pathology , Phenotype , Treatment Outcome
SELECTION OF CITATIONS
SEARCH DETAIL
...