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Increased Prevalence of Immunoglobulin A Deficiency in Patients with the Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

Christopher A. Smith, Deborah A. Driscoll, Beverly S. Emanuel, Donna M. McDonald-McGinn, Elaine H. Zackai, Kathleen E. Sullivan
Christopher A. Smith
Division of Immunologic and Infectious Diseases and
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Deborah A. Driscoll
Department of Obstetrics and Gynecology, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
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Beverly S. Emanuel
Division of Human Genetics and Molecular Biology, The Children’s Hospital of Philadelphia, and
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Donna M. McDonald-McGinn
Division of Human Genetics and Molecular Biology, The Children’s Hospital of Philadelphia, and
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Elaine H. Zackai
Division of Human Genetics and Molecular Biology, The Children’s Hospital of Philadelphia, and
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Kathleen E. Sullivan
Division of Immunologic and Infectious Diseases and
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DOI: 10.1128/CDLI.5.3.415-417.1998
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    Fig. 1.

    IgA levels in patients with the chromosome 22q11.2 deletion syndrome. The solid lines designate the normal range (16).

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  • Table 1.

    Immunologic analyses of patients with the chromosome 22q11.2 deletion syndromea

    Immunologic parameterNo. (%) of patients with IgA level/no. testedP value
    <10 mg/dl>10 mg/dl
    CD4, <900 cells/mm31/4 (25)10/28 (36)1.00
    CD8, <400 cells/mm31/4 (25)11/28 (39)1.00
    Phytohemagglutinin, <50% of control0/4 (0)6/28 (21)0.57
    IgG in serum, <553 mg/dl0/4 (0)3/28 (11)1.00
    IgM in serum, <35 mg/dl0/4 (0)2/28 (7)1.00
    Nonprotective tetanus or diphtheria titerb0/3 (0)1/24 (4)1.00
    • ↵a Some patients have more than one finding.

    • ↵b Studies were not performed for every patient.

  • Table 2.

    Relationship of IgA deficiency to other features associated with the chromosome 22q11.2 deletion syndromea

    Phenotypic featureNo. (%) of patients with IgA level/no. testedP value
    <10 mg/dl>10 mg/dl
    Developmental delay2/4 (50)10/14 (71)0.57
    Cardiac defects2/4 (50)14/28 (50)1.40
    Hypocalcemiab1/4 (25)13/27 (48)0.61
    Palatal abnormalities3/4 (75)13/28 (46)0.60
    • ↵a Most patients have more than one feature.

    • ↵b Studies not performed for every patient.

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Increased Prevalence of Immunoglobulin A Deficiency in Patients with the Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)
Christopher A. Smith, Deborah A. Driscoll, Beverly S. Emanuel, Donna M. McDonald-McGinn, Elaine H. Zackai, Kathleen E. Sullivan
Clinical and Diagnostic Laboratory Immunology May 1998, 5 (3) 415-417; DOI: 10.1128/CDLI.5.3.415-417.1998

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Increased Prevalence of Immunoglobulin A Deficiency in Patients with the Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)
Christopher A. Smith, Deborah A. Driscoll, Beverly S. Emanuel, Donna M. McDonald-McGinn, Elaine H. Zackai, Kathleen E. Sullivan
Clinical and Diagnostic Laboratory Immunology May 1998, 5 (3) 415-417; DOI: 10.1128/CDLI.5.3.415-417.1998
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