DiGeorge sequence with hypogammaglobulinemia: A case report

Yin Hsiu Chien, Yao Hsu Yang, Shau Yin Chu, Wuh Liang Hwu, Pao Lin Kuo, Bor Luen Chiang

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6 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)187-190
Number of pages4
JournalJournal of Microbiology, Immunology and Infection
Volume35
Issue number3
Publication statusPublished - 2002 Sep 1

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Immunology and Microbiology(all)
  • Microbiology (medical)
  • Infectious Diseases

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    Chien, Y. H., Yang, Y. H., Chu, S. Y., Hwu, W. L., Kuo, P. L., & Chiang, B. L. (2002). DiGeorge sequence with hypogammaglobulinemia: A case report. Journal of Microbiology, Immunology and Infection, 35(3), 187-190.