Immunologic phenotype of a child with the MEHMO syndrome
Language English Country Czech Republic Media print-electronic
Document type Case Reports, Journal Article
PubMed
32901502
PubMed Central
PMC8549901
DOI
10.33549/physiolres.934498
PII: 934498
Knihovny.cz E-resources
- MeSH
- Child MeSH
- Epilepsy drug therapy genetics immunology pathology MeSH
- Eukaryotic Initiation Factor-2 genetics MeSH
- Phenotype MeSH
- Hypogonadism drug therapy genetics immunology pathology MeSH
- Humans MeSH
- X-Linked Intellectual Disability drug therapy genetics immunology pathology MeSH
- Microcephaly drug therapy genetics immunology pathology MeSH
- Mutation * MeSH
- Obesity drug therapy genetics immunology pathology MeSH
- Genitalia abnormalities immunology pathology MeSH
- Treatment Outcome MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Names of Substances
- EIF2S3 protein, human MeSH Browser
- Eukaryotic Initiation Factor-2 MeSH
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.
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