title: Disseminated cutaneous bacille Calmette-Guérin infection identified by polymerase chain reaction in a patient with X-linked severe combined immunodeficiency.
abstract: An 8-month-old boy developed a disseminated cutaneous mycobacterial infection at 6 months of age that responded poorly to treatment. Further immunologic study and sequence analysis showed the presence of a missense mutation in the IL2RG gene, and X-linked severe combined immunodeficiency was diagnosed. To identify the strain of the microorganism causing the cutaneous infection, polymerase chain reaction with four pairs of primers was performed on skin biopsy specimens positive for acid-fast bacilli. Sequence analysis showed 99.36% homology with a bacilli Calmette-Guérin positive control. Disseminated bacilli Calmette-Guérin disease must be considered in any infant with cutaneous mycobacterial lesions, especially those with atypical histologic findings or who are immunocompromised. Testing by polymerase chain reaction using the proper primers may help in making a precise diagnosis.
authors.affiliation: Allergy and Immunology, Department of Pediatrics, Mackay Momorial Hospital, Taipei, Taiwan.
authors.forename: Li-Hsin
authors.initials: LH
authors.lastname: Huang
authors.forename: Shyh-Dar
authors.initials: SD
authors.lastname: Shyur
authors.forename: Jyh-Der
authors.initials: JD
authors.lastname: Weng
authors.lastname: Shin-Chi
authors.forename: Fu-Yuan
authors.initials: FY
authors.lastname: Huang
authors.forename: Chin-Yuan
authors.initials: CY
authors.lastname: Tzen
mesh_terms: D001500:BCG Vaccine / Q000008:administration & dosage / Q000009:adverse effects; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D009163:Mycobacterium bovis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014382:Tuberculosis, Cutaneous / Q000150:complications / Q000175:diagnosis* / Q000382:microbiology*; D053632:X-Linked Combined Immunodeficiency Diseases / Q000150:complications / Q000175:diagnosis* / Q000382:microbiology*
chemical_list: D001500:BCG Vaccine