Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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. Disease data Classification Disease Synonyms Autosomal recessive MSMD due to complete RORgamma receptor defiency Autosomalna recesywna MSMD z powodu całkowitego niedoboru receptora RORgamma Autosomalny recesywny niedobór odporności spowodowany mutacją RORC Autosomal recessive primary immunodeficiency due to RORC mutation ORPHA code 477857 OMIM code 616622 ICD10 code D84.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl