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'''Mendelian susceptibility to mycobacterial disease''', also called '''familial disseminated atypical mycobacterial infection''', is a rare genetic disease characterized by susceptibility to [[mycobacteria]] and [[Salmonella]] infection outside of the intestinal tract.<ref name=Cottle>{{cite journal |author=Cottle LE |title=Mendelian susceptibility to mycobacterial disease |journal=Clinical Genetics |volume=79 |issue=1 |pages=17–22 | date=January 2011 |pmid=20718793 |doi=10.1111/j.1399-0004.2010.01510.x |url=}}</ref><ref>{{cite web |url = https://omim.org/entry/209950 |title = IMMUNODEFICIENCY 27A; IMD27A |work = OMIM |date = 8 September 2014 |publisher = Johns Hopkins University}}</ref>
'''Mendelian susceptibility to mycobacterial disease (MSMD)''' is a [[primary immunodeficiency]] featured by molecular defects in [[Interleukin 12|IL12]]/[[Interferon gamma|IFNγ]] dependent signalling pathway, leading to increased susceptibility to local or disseminated infections by [[Nontuberculous mycobacteria|environmental mycobacteria]], ''[[Mycobacterium bovis]]'' [[BCG vaccine|Bacille Calmette-Guerin]] strain, nontyphoidal and typhoidal [[Salmonellosis|''Salmonella'']] serotypes.<ref>{{Cite journal|date=2017|editor-last=Rezaei|editor-first=Nima|editor2-last=Aghamohammadi|editor2-first=Asghar|editor3-last=Notarangelo|editor3-first=Luigi D.|title=Primary Immunodeficiency Diseases|url=https://link.springer.com/book/10.1007/978-3-662-52909-6|language=en-gb|doi=10.1007/978-3-662-52909-6}}</ref><ref name="Cottle">{{cite journal|author=Cottle LE|date=January 2011|title=Mendelian susceptibility to mycobacterial disease|url=|journal=Clinical Genetics|volume=79|issue=1|pages=17–22|doi=10.1111/j.1399-0004.2010.01510.x|pmid=20718793}}</ref><ref>{{cite web|url=https://omim.org/entry/209950|title=IMMUNODEFICIENCY 27A; IMD27A|date=8 September 2014|work=OMIM|publisher=Johns Hopkins University}}</ref>


==References==
==References==

Revision as of 11:59, 5 September 2018

Mendelian susceptibility to mycobacterial disease

Mendelian susceptibility to mycobacterial disease (MSMD) is a primary immunodeficiency featured by molecular defects in IL12/IFNγ dependent signalling pathway, leading to increased susceptibility to local or disseminated infections by environmental mycobacteria, Mycobacterium bovis Bacille Calmette-Guerin strain, nontyphoidal and typhoidal Salmonella serotypes.[1][2][3]

References

  1. ^ Rezaei, Nima; Aghamohammadi, Asghar; Notarangelo, Luigi D., eds. (2017). "Primary Immunodeficiency Diseases". doi:10.1007/978-3-662-52909-6. {{cite journal}}: Cite journal requires |journal= (help)
  2. ^ Cottle LE (January 2011). "Mendelian susceptibility to mycobacterial disease". Clinical Genetics. 79 (1): 17–22. doi:10.1111/j.1399-0004.2010.01510.x. PMID 20718793.
  3. ^ "IMMUNODEFICIENCY 27A; IMD27A". OMIM. Johns Hopkins University. 8 September 2014.

External links

Retrieved from "https://en.wikipedia.org/w/index.php?title=Mendelian_susceptibility_to_mycobacterial_disease&oldid=858149752"