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Pediatrics. 2017 Nov;140(5). pii: e20161668. doi: 10.1542/peds.2016-1668. Epub 2017 Oct 12.

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

Author information

1
Pediatrics Unit and naydin9@mynet.com.
2
Pediatric Surgery Unit, Bakirkoy Dr Sadi Konuk Education and Training Hospital, Istanbul, Turkey.
3
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute.
4
Paris Descartes University, Paris, France.
5
Laboratory of Molecular Tuberculosis Epidemiology, Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
6
St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York; and.
7
Pediatric Hematology-Immunology Unit, Assistance Publique-Hôpitaux de Paris AP-HP, and.
8
Howard Hughes Medical Institute, New York, New York.
9
Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris AP-HP, Necker Hospital for Sick Children, Paris, France.

Abstract

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 Mycobacteria and Salmonella 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 IL12RB1 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.

PMID:
29025965
PMCID:
PMC5654388
DOI:
10.1542/peds.2016-1668
[Indexed for MEDLINE]
Free PMC Article

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