Abstract Mendelian Susceptibility to Mycobacterial Disease describes a spectrum of
inherited defects, of which complete deficiency of the interleukin-12 receptor β subunit 1 (IL …

In the last decade, autosomal recessive interleukin-12 receptor β1 (IL-12Rβ1) deficiency, the
most common cause of Mendelian susceptibility to mycobacterial disease (MSMD), has …

Background and Objectives In the last decade, autosomal recessive IL-12Rβ1 deficiency
has been diagnosed in four children with severe tuberculosis from three unrelated families …

Abstract Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a relatively new term
that describes a spectrum of inherited defects in the IL-12/23 and IFN-γ pathways that result …

A 33-year-old man was admitted in hospital due to fever, generalized lymphadenopathy,
and hepatosplenomegaly. He had a history of anti-tuberculosis treatment in the previous 3 …

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 …

Abstract The interleukin (IL)-12/interferon (IFN) γ axis plays an important role in the control of
mycobacterial diseases as demonstrated by the increased susceptibility to mycobacterial …

Two siblings with interleukin-12 receptor β1 (IL-12Rβ1) deficiency but different clinical
phenotypes were studied. Both are homozygous for an IL12RB1 missense mutation that …

A genetically determined susceptibility to mycobacterial disease due to a specific
immunological deficiency has been described [1, 2]. Although known as Mendelian …

Purpose Mendelian susceptibility to mycobacterial disease is a rare clinical condition
characterized by a predisposition to infectious diseases caused by poorly virulent …