title: [Bacillus Calmette-Guérin (BCG) disease and interleukin 12 receptor β1 deficiency: clinical experience of two familial and one sporadic case].
abstract: BCG disease has been reported in primary and secondary immunodeficiency and as Mendelian Susceptibility to Mycobacterial Diseases (MSMD). Investigation of this syndrome has led to the identifications of a series of genetic, inherited defects in the IL-12/IFN-γ axis. MSMD-causing mutations have been found in seven autosomal and two X-linked genes. In these patients, local or disseminated vaccine BCG infections are common. We report a clinical series including two infants with left axillary adenitis ipsilateral to the site of neonatal BCG immunization; one of them member of a family with two previously reported cases and a single sporadic case. All of them were diagnosed sequentially in Puerto Montt, Chile. The aim of this report is to notify the first Chilean disseminated BCG patients without previous immunodeficiency, in whom it was possible to identify an underlying immunodeficiency, although specific tests for IL-12/IFN-γ axis was no performed in our country. Clinical suspicion and international collaboration permitted to confirm IL12-Rβ1 deficiency in 2 of 3 familial cases and a sporadic case.
authors.forename: Alexis
authors.initials: A
authors.lastname: Strickler
authors.forename: Amir
authors.initials: A
authors.lastname: Pérez
authors.forename: Migdy
authors.initials: M
authors.lastname: Risco
authors.forename: Silvanna
authors.initials: S
authors.lastname: Gallo
mesh_terms: D017668:Age of Onset; D001500:BCG Vaccine / Q000009:adverse effects*; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009165:Mycobacterium Infections, Nontuberculous / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D053707:Receptors, Interleukin-12 / Q000172:deficiency* / Q000235:genetics*; D055815:Young Adult
chemical_list: D001500:BCG Vaccine; C508438:IL12RB1 protein, human; D053707:Receptors, Interleukin-12