Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report

Tuberculosis is a major worldwide problem, and protection from it is achieved mainly by live attenuated bacille Calmette-Guérin vaccine, which is capable of causing disease in immunocompromised host. Oral thrush is abnormal in healthy children, which suggests an underlying immunodeficiency. Mendelia...

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Bibliographic Details
Published in:Pediatrics (Evanston) 2017-11, Vol.140 (5)
Main Authors: Hatipoglu, Nevin, Güvenç, B Haluk, Deswarte, Caroline, Koksalan, Kaya, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Bustamante, Jacinta
Format: Article
Language:English
Subjects:
BCG Vaccine - adverse effects
Candidiasis, Oral - diagnostic imaging
Candidiasis, Oral - genetics
Case Report
Child, Preschool
Female
Humans
Lymphadenitis - chemically induced
Lymphadenitis - complications
Lymphadenitis - diagnostic imaging
Lymphadenitis - genetics
Pedigree
Receptors, Interleukin-12 - deficiency
Receptors, Interleukin-12 - genetics
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Summary:Tuberculosis is a major worldwide problem, and protection from it is achieved mainly by live attenuated bacille Calmette-Guérin vaccine, which is capable of causing disease in immunocompromised host. Oral thrush is abnormal in healthy children, which suggests an underlying immunodeficiency. Mendelian susceptibility to mycobacterial disease is a rare primary immunodeficiency characterized by a selective predisposition to weakly virulent and and also predisposition to chronic mucocutaneous candidiasis. Interleukin 12 receptor β1 (IL-12Rβ1) deficiency is the most common disease of Mendelian susceptibility to mycobacterial disease, and to date only 50 IL-12Rβ1 deficient patients with clinical signs of chronic mucocutaneous candidiasis have been reported. We report a 2.5-year-old daughter of consanguineous parents with both regional bacille Calmette-Guérin lymphadenitis and recurrent oral candidiasis carrying biallelic R175W mutation in the gene, resulting in complete loss of expression of IL-12Rβ1. To our knowledge, this is the first report of bacille Calmette-Guérin lymphadenitis with concurrent oral candidiasis displaying such a mutation. New mutations and wide clinical diversities are the indisputable fact of populations with a high rate of consanguineous marriages.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.2016-1668