title: Disseminated BCG in an infant with interleukin-12 receptor B1 (IL12RB1) deficiency.
abstract: Although neonatal vaccination with bacille Calmette-Guérin (BCG) is considered to be safe, complications with disseminated disease are associated with underlying immuno-deficiency disorders. A BCG-vaccinated 4-month-old girl of Sri Lankan parentage developed progressive left axillary lymphadenopathy and severe bronchopneumonia. Lymph node biopsy demonstrated epithelioid granulomata and acid-fast bacilli. An older sibling had had a similar clinical presentation and the outcome had been fatal. Investigation for immuno-deficiency detected complete IL12RB1 deficiency. Full recovery followed a prolonged course of anti-tuberculous chemotherapy. She was put on lifelong isoniazid prophylaxis. In HIV-negative infants with unusual complications related to BCG vaccination, a primary immuno-deficiency disorder should be considered.
authors.forename: Manouri P
authors.initials: MP
authors.lastname: Senanayake
authors.forename: D S
authors.initials: DS
authors.lastname: Kumararatne
authors.forename: Rainer
authors.initials: R
authors.lastname: Doffinger
authors.forename: Gabriela
authors.initials: G
authors.lastname: Barcenas-Morales
mesh_terms: D000995:Antitubercular Agents / Q000627:therapeutic use; D001500:BCG Vaccine / Q000008:administration & dosage / Q000009:adverse effects*; D001706:Biopsy; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications*; D007223:Infant; D008168:Lung / Q000473:pathology; D008198:Lymph Nodes / Q000473:pathology; D009163:Mycobacterium bovis / Q000302:isolation & purification*; D053707:Receptors, Interleukin-12 / Q000172:deficiency*; D013188:Sri Lanka; D016896:Treatment Outcome; D014376:Tuberculosis / Q000175:diagnosis* / Q000382:microbiology*
chemical_list: D000995:Antitubercular Agents; D001500:BCG Vaccine; C508438:IL12RB1 protein, human; D053707:Receptors, Interleukin-12
keywords: Interleukin-12 receptor B1 (IL12RB1) deficiency; Mendelian susceptibility to mycobacterial disease,; Neonatal BCG vaccination,