title: Infectious and immunologic phenotype of MECP2 duplication syndrome.
abstract: MECP2 (methyl CpG binding protein 2) duplication causes syndromic intellectual disability. Patients often suffer from life-threatening infections, suggesting an additional immunodeficiency. We describe for the first time the detailed infectious and immunological phenotype of MECP2 duplication syndrome. 17/27 analyzed patients suffered from pneumonia, 5/27 from at least one episode of sepsis. Encapsulated bacteria (S.pneumoniae, H.influenzae) were frequently isolated. T-cell immunity showed no gross abnormalities in 14/14 patients and IFNy-secretion upon ConA-stimulation was not decreased in 6/7 patients. In 6/21 patients IgG2-deficiency was detected - in 4/21 patients accompanied by IgA-deficiency, 10/21 patients showed low antibody titers against pneumococci. Supra-normal IgG1-levels were detected in 11/21 patients and supra-normal IgG3-levels were seen in 8/21 patients - in 6 of the patients as combined elevation of IgG1 and IgG3. Three of the four patients with IgA/IgG2-deficiency developed multiple severe infections. Upon infections pronounced acute-phase responses were common: 7/10 patients showed CRP values above 200 mg/l. Our data for the first time show systematically that increased susceptibility to infections in MECP2 duplication syndrome is associated with IgA/IgG2-deficiency, low antibody titers against pneumococci and elevated acute-phase responses. So patients with MECP2 duplication syndrome and low IgA/IgG2 may benefit from prophylactic substitution of sIgA and IgG.
authors.affiliation: Pediatric Pneumology and Immunology, Charité University Medicine, Berlin, Germany, Michael.Bauer@charite.de.
authors.forename: Michael
authors.initials: M
authors.lastname: Bauer
authors.forename: Uwe
authors.initials: U
authors.lastname: Kölsch
authors.forename: Renate
authors.initials: R
authors.lastname: Krüger
authors.forename: Nadine
authors.initials: N
authors.lastname: Unterwalder
authors.forename: Karin
authors.initials: K
authors.lastname: Hameister
authors.forename: Fabian Marc
authors.initials: FM
authors.lastname: Kaiser
authors.forename: Aglaia
authors.initials: A
authors.lastname: Vignoli
authors.forename: Rainer
authors.initials: R
authors.lastname: Rossi
authors.forename: Maria Pilar
authors.initials: MP
authors.lastname: Botella
authors.forename: Magdalena
authors.initials: M
authors.lastname: Budisteanu
authors.forename: Monica
authors.initials: M
authors.lastname: Rosello
authors.forename: Carmen
authors.initials: C
authors.lastname: Orellana
authors.forename: Maria Isabel
authors.initials: MI
authors.lastname: Tejada
authors.forename: Sorina Mihaela
authors.initials: SM
authors.lastname: Papuc
authors.forename: Oliver
authors.initials: O
authors.lastname: Patat
authors.forename: Sophie
authors.initials: S
authors.lastname: Julia
authors.forename: Renaud
authors.initials: R
authors.lastname: Touraine
authors.forename: Thusari
authors.initials: T
authors.lastname: Gomes
authors.forename: Kirsten
authors.initials: K
authors.lastname: Wenner
authors.forename: Xiu
authors.initials: X
authors.lastname: Xu
authors.forename: Alexandra
authors.initials: A
authors.lastname: Afenjar
authors.forename: Annick
authors.initials: A
authors.lastname: Toutain
authors.forename: Nicole
authors.initials: N
authors.lastname: Philip
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Jezela-Stanek
authors.forename: Ludwig
authors.initials: L
authors.lastname: Gortner
authors.forename: Francisco
authors.initials: F
authors.lastname: Martinez
authors.forename: Bernard
authors.initials: B
authors.lastname: Echenne
authors.forename: Volker
authors.initials: V
authors.lastname: Wahn
authors.forename: Christian
authors.initials: C
authors.lastname: Meisel
authors.forename: Dagmar
authors.initials: D
authors.lastname: Wieczorek
authors.forename: Salima
authors.initials: S
authors.lastname: El-Chehadeh
authors.forename: Hilde
authors.initials: H
authors.lastname: Van Esch
authors.forename: Horst
authors.initials: H
authors.lastname: von Bernuth
mesh_terms: D000209:Acute-Phase Proteins / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D002097:C-Reactive Protein / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D020440:Gene Duplication; D005838:Genotype; D006801:Humans; D007111:Immunity, Cellular; D056724:Immunity, Humoral; D007136:Immunoglobulins / Q000097:blood / Q000276:immunology; D007239:Infections / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D008297:Male; D038901:X-Linked Intellectual Disability / Q000150:complications* / Q000175:diagnosis / Q000276:immunology*; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D008875:Middle Aged; D010641:Phenotype; D055815:Young Adult
chemical_list: D000209:Acute-Phase Proteins; D007136:Immunoglobulins; D051783:Methyl-CpG-Binding Protein 2; D002097:C-Reactive Protein