title: DiGeorge sequence with hypogammaglobulinemia: a case report.
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.
authors.affiliation: Department of Pediatrics, National Taiwan University Hospital, Taipei, ROC.
authors.forename: Yin-Hsiu
authors.initials: YH
authors.lastname: Chien
authors.forename: Yao-Hsu
authors.initials: YH
authors.lastname: Yang
authors.forename: Shau-Yin
authors.initials: SY
authors.lastname: Chu
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
authors.forename: Pao-Lin
authors.initials: PL
authors.lastname: Kuo
authors.forename: Bor-Luen
authors.initials: BL
authors.lastname: Chiang
mesh_terms: D000361:Agammaglobulinemia / Q000175:diagnosis* / Q000276:immunology; D000917:Antibody Formation / Q000276:immunology; D018791:CD4 Lymphocyte Count; D018414:CD8-Positive T-Lymphocytes / Q000276:immunology; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology*; D005145:Face / Q000002:abnormalities; D017809:Fatal Outcome; D006388:Hemagglutinins / Q000032:analysis / Q000145:classification; D006801:Humans; D007111:Immunity, Cellular / Q000276:immunology; D007136:Immunoglobulins / Q000032:analysis / Q000145:classification; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D016131:Lymphocyte Subsets / Q000145:classification; D008297:Male
chemical_list: D006388:Hemagglutinins; D007136:Immunoglobulins