Autosomalna recesywna mendelowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru receptora RORgamma

A rare primary immunodeficiency characterized by increased susceptibility to infections with <i>candida albicans</i> and weakly pathogenic mycobacteria, such as <i>mycobacterium bovis</i>. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size, and variable hepatosplenomegaly. The immunological phenotype comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells.