Infectious and immunologic phenotype of MECP2 Duplication syndrome.
PBN-AR
Instytucja
Instytut "Pomnik - Centrum Zdrowia Dziecka"
Informacje podstawowe
Główny język publikacji
en
Czasopismo
JOURNAL OF CLINICAL IMMUNOLOGY
ISSN
0271-9142
EISSN
1573-2592
Wydawca
Springer
DOI
Rok publikacji
2015
Numer zeszytu
2
Strony od-do
168-181
Numer tomu
35
Identyfikator DOI
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Autorzy
(liczba autorów: 33)
Pozostali autorzy
+ 32
Słowa kluczowe
en
Xq28-duplication syndrome
methyl CpG binding protein 2 (MECP2)
MECP2 duplication syndrome
primary immunodeficiency
intellectual disability
humoral immunodeficiency
Streszczenia
Język
en
Treść
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.
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Inne
System-identifier
0000014229
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