title: Hyper-IgM syndrome--a case report and a clinical perspective.
abstract: The authors describe the case of a 28-year-old woman, with a history of recurrent bacterial infections since childhood and multiple hospitalizations for pneumonia, with important pulmonary sequelae, including bronchiectasis which warranted the need to perform a left lobectomy and lingulectomia at age 13. After diagnostic work up, the diagnosis of hypogammaglobulinemia with hyper-IgM was established, and she began regular replacement i.v. immunoglobulin treatment, with good tolerance and no side effects. A sequencing of the entire coding region (exons 1-5) of the AICDA gene was performed, and a homozygous c.260G > C mutation was identified, confirming the diagnosis of type 2 hyper-IgM syndrome. This case illustrates the negative impact that a delay in diagnosis and hence delay in treatment has in patients with primary immunodeficiency since early therapy is the only way to reduce the incidence and severity of complications.
authors.affiliation: Allergy Division, Hospital S. João, EPE - Porto, Portugal.
authors.forename: R
authors.initials: R
authors.lastname: Silva
authors.forename: J Torres
authors.initials: JT
authors.lastname: Da Costa
mesh_terms: D000293:Adolescent; D000328:Adult; D001424:Bacterial Infections; D001987:Bronchiectasis; D003564:Cytidine Deaminase / Q000235:genetics*; D004252:DNA Mutational Analysis; D042241:Early Diagnosis; D005260:Female; D006760:Hospitalization; D006801:Humans; D053306:Hyper-IgM Immunodeficiency Syndrome / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology / Q000601:surgery; D016756:Immunoglobulins, Intravenous / Q000008:administration & dosage* / Q000009:adverse effects; D008168:Lung / Q000382:microbiology / Q000601:surgery; D009154:Mutation / Q000235:genetics*; D012008:Recurrence; D000098830:AICDA (Activation-Induced Cytidine Deaminase)
chemical_list: D016756:Immunoglobulins, Intravenous; D000098830:AICDA (Activation-Induced Cytidine Deaminase); D003564:Cytidine Deaminase