DiGeorge sequence with hypogammaglobulinemia: A case report
Journal
Journal of Microbiology, Immunology and Infection
Journal Volume
35
Journal Issue
3
Pages
187-190
Date Issued
2002
Author(s)
Abstract
The most common immunodeficiency in DiGeorge sequence patients is defects in T-cell production due to insufficient thymic tissue. However, because T-lymphocytes are important in regulating antibody responses, DiGeorge sequence is no longer regarded as a pure deficiency of cellular immunity but also a form of variable-combined immunodeficiency. Here we presented a 4-month-old male infant with characteristic facial dysmorphism, thymus dysplasia, tetralogy of Fallot, and documented deletion of chromosome 22q11.2 who had decrease B-lymphocyte numbers and hypogammaglobulinemia. The mitogen responses of T-lymphocytes function were normal with adequate number of CD4+ lymphocytes. This case report highlights the importance of evaluating not only the cellular but also the humoral immune function in patients with DiGeorge sequence.
SDGs
Other Subjects
article; case report; cellular immunity; chromosome 22q; chromosome deletion; combined immunodeficiency; DiGeorge syndrome; dysplasia; face dysmorphia; Fallot tetralogy; fluorescence in situ hybridization; human; humoral immunity; hypogammaglobulinemia; infant; male; syndrome delineation; thymus disease; Agammaglobulinemia; Antibody Formation; CD4 Lymphocyte Count; CD8-Positive T-Lymphocytes; Chromosomes, Human, Pair 22; DiGeorge Syndrome; Face; Fatal Outcome; Hemagglutinins; Humans; Immunity, Cellular; Immunoglobulins; In Situ Hybridization, Fluorescence; Infant; Lymphocyte Subsets; Male
Type
journal article