Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
Synonyms: Autosomal recessive MSMD due to partial JAK1 deficiency
A rare primary immunodeficiency characterized by recurrent atypical mycobacterial infections accompanied by relatively minor viral infections on an immunological background of reduced induction of expression of interferon-regulated genes and dysregulated cytokine production as revealed by laboratory studies. Global developmental delay and occurrence of non-hematopoietic malignancy at a young age have been reported in association.
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 partial JAK1 deficiency?
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Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
Care-for-Rare America Inc
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Ukrainian Association of Pediatric Immunology
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Syndromes Without A Name (SWAN) Australia
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