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 IgG(2)-deficiency was detected - in 4/21 patients accompanied by IgA-deficiency, 10/21 patients showed low antibody titers against pneumococci. Supra-normal IgG(1)-levels were detected in 11/21 patients and supra-normal IgG(3)-levels were seen in 8/21 patients - in 6 of the patients as combined elevation of IgG(1) and IgG(3). Three of the four patients with IgA/IgG(2)-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/IgG(2)-deficiency, low antibody titers against pneumococci and elevated acute-phase responses. So patients with MECP2 duplication syndrome and low IgA/IgG(2) may benefit from prophylactic substitution of sIgA and IgG.
[1]Charite, Pediat Pneumol & Immunol, D-13353 Berlin, Germany.
[2]Labor Berlin GmbH, Dept Immunol, Berlin, Germany.
[3]Pediat Neurol & Social Med Konigsborn, Unna, Germany.
[4]Goethe Univ Hosp, Dept Stem Cell Transplantat & Immunol, Childrens Hosp, Frankfurt, Germany.
[5]Univ Milan, Dept Hlth Sci, San Paolo Hosp, Epilepsy Ctr, Milan, Italy.
[6]Vivantes GmbH, Childrens Hosp Neukolln, Berlin, Germany.
[7]Txagorritxu Hosp, Pediat Neurol, Vitoria, Spain.
[8]Prof Dr Alexandru Obregia Clin Hosp Psychiat, Bucharest, Romania.
[9]Hosp Univ La Fe, Dept Genet & Prenatal Diagnost, Valencia, Spain.
[10]Cruces Univ Hosp, BioCruces Hlth Res Inst, Mol Genet Lab, Genet Serv, Baracaldo, Spain.
[11]Victor Babes Natl Inst Pathol, Bucharest, Romania.
[12]CHU Toulouse, Hop Purpan, Serv Genet Med, Toulouse, France.
[13]CHU St Etienne, Serv Genet, St Etienne, France.
[14]Univ Childrens Hosp Saarland, Fac Med, Dept Gen Pediat & Neonatol, Homburg, Germany.
[15]Childrens Univ Hosp, Hamburg Eppendorf, Germany.
[16]Outpatient Clin, Hamburg Eppendorf, Germany.
[17]Fudan Univ, Childrens Hosp, Dept Child Healthcare, Shanghai 200433, Peoples R China.
[18]CHU Paris, GH Pitie Salpetriere, Dept Genet, Hop Pitie Salpetriere, Paris, France.
[19]CHRU Tours, Hop Bretonneau, Serv Genet, Tours, France.
[20]CHU Marseille, Hop Enfants La Timone, Unite Genet Clin, Dept Genet Med, Marseille, France.
[21]Childrens Mem Hlth Inst, Dept Med Genet, Warsaw, Poland.
[22]CHU Montpellier, Pediat Neurol, Montpellier, France.
[23]Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Essen, Germany.
[24]Hop Enfants, Ctr Genet, Dijon, France.
[25]Katholieke Univ Leuven, Univ Hosp Leuven, Ctr Human Genet, Leuven, Belgium.
[26]Charite Kinderklin Schwerpunkt Pneumol & Immunol, D-13353 Berlin, Germany.
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