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• W2104879085 abstract "RationaleBoys affected with 49-XXXXY sex chromosomal variation have been described to have high incidence of recurrent otitis media and asthma, the cause of which is unknown. We hypothesized that some degree of primary immunodeficiency occurs in patients with XXXXY aneuploidy.MethodsThe families of patients with known XXXXY chromosomal variation were interviewed. Histories obtained included screening via the “10 warning signs of immunodeficiency“(Jeffrey Modell Foundation), as well as atopic or autoimmune conditions and a family history. All available prior immunologic testing and vaccine histories were reviewed with family consent.ResultsEighteen affected boys were evaluated. Thirteen had history of at least 2 of the 10 warning signs, and three had history of 4 or more warning signs. Seven boys had history of recurrent pneumonia, and four of these boys had received 23-valent pneumococcal booster vaccine in the past. Five patients had prior immunologic testing, and one boy had been diagnosed with specific antibody deficiency due to lack of response to pneumococcal booster. All patients had history of atopic conditions, with 14 carrying the diagnosis of asthma. None had history of autoimmune disease, and none had family history of immunodeficiency.ConclusionsA high incidence of warning signs of primary immunodeficiency occurs in patients with XXXXY chromosomal variation. The frequent occurrence of pneumonia, asthma, and the finding of a patient with specific antibody deficiency in this cohort suggest that humoral abnormalities may be increased in this population. Further studies of these patients are currently ongoing. RationaleBoys affected with 49-XXXXY sex chromosomal variation have been described to have high incidence of recurrent otitis media and asthma, the cause of which is unknown. We hypothesized that some degree of primary immunodeficiency occurs in patients with XXXXY aneuploidy. Boys affected with 49-XXXXY sex chromosomal variation have been described to have high incidence of recurrent otitis media and asthma, the cause of which is unknown. We hypothesized that some degree of primary immunodeficiency occurs in patients with XXXXY aneuploidy. MethodsThe families of patients with known XXXXY chromosomal variation were interviewed. Histories obtained included screening via the “10 warning signs of immunodeficiency“(Jeffrey Modell Foundation), as well as atopic or autoimmune conditions and a family history. All available prior immunologic testing and vaccine histories were reviewed with family consent. The families of patients with known XXXXY chromosomal variation were interviewed. Histories obtained included screening via the “10 warning signs of immunodeficiency“(Jeffrey Modell Foundation), as well as atopic or autoimmune conditions and a family history. All available prior immunologic testing and vaccine histories were reviewed with family consent. ResultsEighteen affected boys were evaluated. Thirteen had history of at least 2 of the 10 warning signs, and three had history of 4 or more warning signs. Seven boys had history of recurrent pneumonia, and four of these boys had received 23-valent pneumococcal booster vaccine in the past. Five patients had prior immunologic testing, and one boy had been diagnosed with specific antibody deficiency due to lack of response to pneumococcal booster. All patients had history of atopic conditions, with 14 carrying the diagnosis of asthma. None had history of autoimmune disease, and none had family history of immunodeficiency. Eighteen affected boys were evaluated. Thirteen had history of at least 2 of the 10 warning signs, and three had history of 4 or more warning signs. Seven boys had history of recurrent pneumonia, and four of these boys had received 23-valent pneumococcal booster vaccine in the past. Five patients had prior immunologic testing, and one boy had been diagnosed with specific antibody deficiency due to lack of response to pneumococcal booster. All patients had history of atopic conditions, with 14 carrying the diagnosis of asthma. None had history of autoimmune disease, and none had family history of immunodeficiency. ConclusionsA high incidence of warning signs of primary immunodeficiency occurs in patients with XXXXY chromosomal variation. The frequent occurrence of pneumonia, asthma, and the finding of a patient with specific antibody deficiency in this cohort suggest that humoral abnormalities may be increased in this population. Further studies of these patients are currently ongoing. A high incidence of warning signs of primary immunodeficiency occurs in patients with XXXXY chromosomal variation. The frequent occurrence of pneumonia, asthma, and the finding of a patient with specific antibody deficiency in this cohort suggest that humoral abnormalities may be increased in this population. Further studies of these patients are currently ongoing." @default.
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• W2104879085 date "2012-02-01" @default.
• W2104879085 modified "2023-09-27" @default.
• W2104879085 title "Incidence of Immunodeficiency in Patients with 49-XXXXY Chromosomal Variation" @default.
• W2104879085 doi "https://doi.org/10.1016/j.jaci.2011.12.620" @default.
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