Interleukin-12 Receptor  1 Chain Deficiency in a Child with Disseminated Tuberculosis

Abstract

An 11-year-old girl who presented with disseminated tuberculosis associated with secondary hemophagocytosis received a diagnosis of interleukin-12 receptor beta 1 chain deficiency. This diagnosis of immunodeficiency should, therefore, be considered for children with disseminated tuberculosis, even in the absence of any personal or familial history of prior infection by weakly pathogenic Salmonella and Mycobacterium species.

Severe infectious diseases of childhood as monogenic inborn errors of immunity

“…These observations raise fundamental questions about the mechanisms underlying incomplete penetrance and variable expressivity that have yet to be answered. In this context, we serendipitously discovered the first cases (to our knowledge) of monogenic tuberculosis, in patients and even in families with IL-12Rβ1 deficiency manifesting solely as severe tuberculosis (86)(87)(88)(89)(90)(91). These patients were normally resistant to live bacillus Calmette-Guérin vaccine and environmental mycobacteria.…”

Complete deficiency of the IL-12 receptor β1 chain: three unrelated Turkish children with unusual clinical features

“…Paracoccidioides brasiliensis-disseminated disease has also recently been reported in an IL-12Rβ1-deficient patient. None of the 37 patients with BCG disease subsequently developed environmental mycobacterial disease, whereas 12 of the 19 patients who had no BCG disease developed environmental mycobacterial disease [3][4][5][6].…”

“…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][5][6]. Paracoccidioides brasiliensis-disseminated disease has also recently been reported in an IL-12Rβ1-deficient patient.…”

A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease

“…5 The patients are also vulnerable to the more virulent Mycobacterium tuberculosis. [6][7][8][9][10][11] Typically, patients are not particularly prone to other infections, except salmonellosis, which affects less than half the cases. MSMD is clinically heterogeneous, and outcome is correlated with the type of histological lesions present.…”