{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T10:43:00Z","timestamp":1649155380295},"reference-count":13,"publisher":"Institute of Physiology of the Czech Academy of Sciences","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Physiol Res"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.33549\/physiolres.934498","type":"journal-article","created":{"date-parts":[[2020,12,14]],"date-time":"2020-12-14T09:37:13Z","timestamp":1607938633000},"page":"927-932","source":"Crossref","is-referenced-by-count":1,"title":["Immunologic Phenotype of a Child With the MEHMO Syndrome"],"prefix":"10.33549","author":[{"given":"I","family":"TROCHANOV\u00c1","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Medical Faculty of Comenius University and National Institute of Children's Diseases, Bratislava, Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"STAN\u00cdKOV\u00c1","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical Faculty of Comenius University and National Institute of Children's Diseases, Bratislava, Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"\u0160KOPKOV\u00c1","sequence":"additional","affiliation":[{"name":"DIABGENE & Laboratory of Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"HA\u0160TOV\u00c1","sequence":"additional","affiliation":[{"name":"Office of General Practitioner for Children and Adolescents, Bratislava, Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"GA\u0160PER\u00cdKOV\u00c1","sequence":"additional","affiliation":[{"name":"DIABGENE & Laboratory of Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"STAN\u00cdK","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical Faculty of Comenius University and National Institute of Children's Diseases, Bratislava, Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"\u010cI\u017dN\u00c1R","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical Faculty of Comenius University and National Institute of Children's Diseases, Bratislava, Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"19169","published-online":{"date-parts":[[2020,10,31]]},"reference":[{"key":"ref0","doi-asserted-by":"publisher","unstructured":"BOYLE JM, BUCKLEY RH: Population prevalence of diagnosed primary immunodeficiency diseases in the United States. 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