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• W2163510130 abstract "Immune defects occur at an increased incidence in patients with dysmorphic conditions, with abnormal immunologic laboratory profiles observed in up to 79% of patients with chromosomal disorders. [1] Mahmoud S.A. Lowery-Nordberg M. Chen H. Thurmon T. Ursin S. Bahna S.L. Immune defects in subjects with dysmorphic disorders. Allergy Asthma Proc. 2005; 26: 373-381 PubMed Google Scholar Chromosome 2p15-16.1 microdeletion syndrome is a rare genetic syndrome characterized by dysmorphic facial features with multiple associated anomalies, including intellectual disability with developmental delay, autism spectrum disorder, feeding difficulties, postnatal growth failure, and gastrointestinal complications. 2 Hucthagowder V. Liu T.C. Paciorkowsi A.R. et al. Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst. Eur J Med Genet. 2012; 55: 485-489 Crossref PubMed Scopus (15) Google Scholar , 3 Jorgez C.J. Rosenfeld J.A. Wilken N.R. et al. Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. PLoS One. 2014; 9: e107028 Crossref PubMed Scopus (24) Google Scholar , 4 de Leeuw N. Pfundt R. Koolen D.A. et al. A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisaion analysis. J Med Genet. 2008; 45: 122-124 Crossref PubMed Scopus (41) Google Scholar , 5 Rajcan-Separovic E. Harvard C. Liu X. et al. Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1. J Med Genet. 2007; 44: 269-276 Crossref PubMed Scopus (109) Google Scholar Several patients with this microdeletion syndrome have also presented with recurrent infections, including otitis media, upper respiratory tract infections, and pneumonia. 2 Hucthagowder V. Liu T.C. Paciorkowsi A.R. et al. Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst. Eur J Med Genet. 2012; 55: 485-489 Crossref PubMed Scopus (15) Google Scholar , 3 Jorgez C.J. Rosenfeld J.A. Wilken N.R. et al. Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. PLoS One. 2014; 9: e107028 Crossref PubMed Scopus (24) Google Scholar , 4 de Leeuw N. Pfundt R. Koolen D.A. et al. A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisaion analysis. J Med Genet. 2008; 45: 122-124 Crossref PubMed Scopus (41) Google Scholar , 5 Rajcan-Separovic E. Harvard C. Liu X. et al. Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1. J Med Genet. 2007; 44: 269-276 Crossref PubMed Scopus (109) Google Scholar However, immunodeficiency has not been previously reported in patients with this syndrome. We describe a patient with chromosome 2p15-16.1 microdeletion syndrome and recurrent childhood infections, hypogammaglobulinemia, and impaired vaccine responses successfully treated with immunoglobulin replacement therapy." @default.
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• W2163510130 date "2015-08-01" @default.
• W2163510130 modified "2023-10-04" @default.
• W2163510130 title "Hypogammaglobulinemia and impaired antibody response in a child with chromosome 2p15-16.1 microdeletion syndrome" @default.
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• W2163510130 doi "https://doi.org/10.1016/j.anai.2015.05.016" @default.
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