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Case Report


Bacille Calmette-Guérin Lymphadenitis and Recurrent Oral Candidiasis in an Infant With a New Mutation Leading to Interleukin-12 Receptor ß-1 Deficiency


C Aytekin,1 F Dogu,2 N Tuygun,1 G Tanir,1 D Guloglu,2 S Boisson-Dupuis,3,4 J Bustamante,3 J Feinberg,3 JL Casanova,3,4 A Ikinciogullari2

1Dr. Sami Ulus Children’s Health and Diseases Training and Research Center, Ankara, Turkey
2Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey
3Pediatric Immunology-Hematology Unit, Laboratory of Human Genetics of Infectious Diseases, University of
Paris Rene Descartes-INSERM U550, Necker Medical School, Paris, France
4Saint Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA

J Investig Allergol Clin Immunol 2011; Vol. 21(5): 401-404



Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare syndrome characterized by predisposition to infections caused by weakly virulent mycobacteria, such as those in bacille Calmette-Guérin (BCG) vaccine and environmental mycobacteria. Salmonellosis has been reported in almost half of affected patients. Patients are also vulnerable to Mycobacterium tuberculosis infection. Several other infectious diseases may occur, albeit rarely. Mucocutaneous candidiasis is more common. Interleukin-12 receptor ß1 (IL-12Rß1) deficiency is the most frequent genetic
cause of MSMD. Here, we describe an infant with a single episode of BCG lymphadenitis who also suffered from recurrent oral candidiasis. Genetic analysis revealed a new homozygous mutation (64+1G>T) in the IL12RB1 gene that caused complete IL-12Rß1 deficiency. IL-12Rß1 deficiency should be considered in patients with BCG infection, even in those who experience a single episode of BCG lymphadenitis or recurrent mucocutaneous candidiasis. Every attempt should be made to heighten awareness in countries where BCG vaccination is performed.

Key words: BCG lymphadenitis. IL-12Rß1 deficiency. Mendelian susceptibility to mycobacterial diseases. Mucocutaneous candidiasis.