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MYD88 deficiency (recurrent pyogenic bacterial infections due to MYD88 deficiency)
Genetics:
- autosomal recessive
- associated with defects in MYD88
Clinical manifestations:
- pyogenic bacterial infections
a) life-threatening
b) often recurrent
c) invasive pneumococcal disease
- death common between 1 & 11 months of age
- surviving patients are otherwise healthy, with normal resistance to other microbes
- clinical status improves with age
Laboratory:
- MYD88 gene p.Leu265Pro mutation
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 612260
References
- OMIM :accession 612260
- ARUP consult:
MYD88 L265P Mutation Detection by PCR, Quantitative
https://arupconsult.com/ati/myd88-l265p-mutation-detection-pcr-quantitative