Coexistence of IL12Rβ1 and BTK Mutations in a Family

Abstract

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inherited syndrome that leads to infectious diseases caused by Mycobacterium bovis-Bacillus Calmette-Guérin (BCG) vaccination [1, 2]. Patients with MSMD suffer from a range of clinical manifestations, including disseminated infections, recurrent infections by environmental mycobacteria (EM) and Salmonella, and extrapulmonary infection by Mycobacterium tuberculosis. The most common form of MSMD is caused by complete IL12Rβ1 deficiency, leading to the absence or dysfunctional expression of IL-12Rβ1 [3]. Individuals with MSMD are susceptible to infections caused by BCG vaccination and other environmental mycobacterial species [4, 5]. X-linked agammaglobulinemia (XLA) is a B-cell disorder characterised by recurrent pyogenic infections, a lack of B cells, and agammaglobulinemia. It occurs due to mutations in the signal transmission molecule in the Bruton Tyrosine Kinase (BTK) gene in the long arm of the X chromosome (Xq21.33-q22) and