title: Application of diagnostic and treatment criteria for common variable immunodeficiency disorder.
abstract: Common variable immunodeficiency disorder (CVID) is the most frequent symptomatic primary immune deficiency disorder in adults. It probably comprises a spectrum of polygenic disorders, with hypogammaglobulinemia being the overarching feature. While the majority of patients with CVID can be identified with relative ease, a significant proportion can present with minimal symptoms in spite of profound laboratory abnormalities. Here we discuss three patients who were presented to the Auckland Hospital immunoglobulin treatment committee to determine if they qualified for immunoglobulin replacement. Two were asymptomatic with profound laboratory abnormalities while the third patient was severely ill with extensive bronchiectasis. The third patient had less severe laboratory abnormalities compared with the two asymptomatic patients. We have applied four sets of published diagnostic and treatment criteria to these patients to compare their clinical utility. We have chosen these patients from the broad phenotypic spectrum of CVID, as this often illustrates differences in diagnostic and treatment criteria.
authors.affiliation: a Department of Virology and Immunology , Auckland Hospital , Auckland , New Zealand.|b Clinical Immunology , Auckland Hospital , Auckland , New Zealand.
authors.forename: Rohan
authors.initials: R
authors.lastname: Ameratunga
authors.affiliation: b Clinical Immunology , Auckland Hospital , Auckland , New Zealand.
authors.forename: Peter
authors.initials: P
authors.lastname: Storey
authors.affiliation: a Department of Virology and Immunology , Auckland Hospital , Auckland , New Zealand.
authors.forename: Russell
authors.initials: R
authors.lastname: Barker
authors.affiliation: b Clinical Immunology , Auckland Hospital , Auckland , New Zealand.
authors.forename: Anthony
authors.initials: A
authors.lastname: Jordan
authors.affiliation: a Department of Virology and Immunology , Auckland Hospital , Auckland , New Zealand.
authors.forename: Wikke
authors.initials: W
authors.lastname: Koopmans
authors.affiliation: a Department of Virology and Immunology , Auckland Hospital , Auckland , New Zealand.
authors.forename: See-Tarn
authors.initials: ST
authors.lastname: Woon
mesh_terms: D000328:Adult; D058070:Asymptomatic Diseases; D001987:Bronchiectasis / Q000000981:diagnostic imaging* / Q000628:therapy; D017074:Common Variable Immunodeficiency / Q000000981:diagnostic imaging* / Q000628:therapy; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D009520:New Zealand; D010375:Pedigree; D053303:Transmembrane Activator and CAML Interactor Protein / Q000235:genetics*
chemical_list: D016756:Immunoglobulins, Intravenous; C108467:TNFRSF13B protein, human; D053303:Transmembrane Activator and CAML Interactor Protein
keywords: Common Variable Immunodeficiency; HGUS; diagnostic criteria