Complete interleukin-12 receptor β1 deficiency is the most frequent known genetic etiology of the syndrome of Mendelian susceptibility to mycobacterial diseases (MSMD, OMIM 209950). Eleven disorders caused by different types of mutations in five different gene defects related to the IL-12 and IL-23/interferon (IFN)-γ axis have been described to date [2]. Refer to Fig. 1 for the pathways of IL-12/IL-23-dependent interferon IFN-gamma immunity. Patients with MSMD are vulnerable to the BacillusCalmette-Guerin (BCG) vaccine species Mycobacterium bovis, environmental mycobacteria and M. tuberculosis. Infectious diseases other than those caused by Salmonella species, the latter of which infect almost one-half of all patients, are rare [1, 3, 6]. We report here various and unusual clinical manifestations of three unrelated patients with complete IL-12Rβ1 deficiency due to three different mutations in the IL-12RB1 gene, of which two are novel (711insC, 628–644dup). The first patient was an 1-year-old infant girl who had BCG lymphadenitis at 6 months of age and disseminated mycobacterial infection complicated with spontaneous pneumomediastinum and subcutaneous emphysema at 12 months of age. She was treated with isoniazide, rifampin, ethambutol, amikacin, clarithromycin and clofazimine. Pre-tracheal fasciotomy was undertaken for subcutaneous emphysema. A complete IL-12 receptor β1 deficiency associated with the 711insC mutation in IL-12RB1 was detected (Fig. 2). The patient is still in remission. The second patient was an 19-month-old infant boy who presented with five episodes of infections attributable to Salmonella and two episodes of Salmonella enteritidis meningitis. There was no mycobacterial disease, including no adverse reaction to BCG immunization that was practiced at the age of 2 months. He was treated with meropenem, rIFN-γ and external ventricular drainage and then ventriculo-peritoneal shunting for hydrocephalus. Immunologic and molecular genetic examinations revealed complete IL-12Rβ1 deficiency and a IL-12RB1 783+ 1G>A mutation (Fig. 2) [3]. The third patient, a 4.5-year-old boy, had fistulized BCG lymphadenitis in early childhood followed by disseminated mycobacterial infection and splenic abscess with Salmonella bacteremia at 44 months of age. He was treated with meropenem and with isoniazide, rifampin, ethambutol, clarithromycin and amikacin. The patient improved; however, he was lost to follow-up and has been reported to have died. DNA sequencing revealed a 628–644dup mutation in IL-12RB1 (Fig. 2). A complete IL-12 receptor β1 deficiency is suspected. All three patients had persistent oral moniliasis. Among a total of 56 cases of IL-12 receptor β1 deficiency reported in the literature, the rate of infection with BCG M. bovis is 73% (27/37), environmental mycobacteria 21% (22/56), non-typhoidal Salmonella species 46% (26/56) and tuberculosis 7% (4/56) [4–6]. Paracoccidioides brasiliensis-disseminated disease has also recently been reported in an IL-12Rβ1-deficient patient. None of the 37 patients with BCG disease subsequently G. Tanir (*) . N. Tuygun . C. Aydemir . E. C. Boduroglu Dr. Sami Ulus Children Health and Diseases Training and Research Center, Hosdere Caddesi 166/3, Yukari Ayranci, 06550 Ankara, Turkey e-mail: gonultanir58@yahoo.com Fax: +90-312-3170353