Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Synonyms: Autosomal recessive MSMD due to complete RORgamma receptor defiency | Autosomal recessive primary immunodeficiency due to RORC mutation
A rare primary immunodeficiency characterized by increased susceptibility to infections with candida albicans and weakly pathogenic mycobacteria such as mycobacterium bovis. 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency?
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Immune Deficiency Foundation
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Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
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Syndromes Without A Name (SWAN) Australia
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