Twitter summary: Immunodeficiency at #CSACI18:
Common variable immunodeficiency (CVID) can present at any point in life but presents in adults with fewer episodes of otitis media than in kids.
Depression is found in a much greater percentage of adult CVID patients than in children.
Some disease processes, like Chronic Granulomatous disease (CGD), can have a variable phenotype and make it to adulthood before diagnosis.
Phenotypes of immunodeficiency in adults vs children not that different: maybe more bronchiectasis, splenomegaly in adults.
Dr. Julia Upton mentioned a case of someone who got to age 72 before being diagnosed with X-linked agammaglobulinemia... despite the fact that it often diagnosed in young children.
Exciting times for diagnosis of immunodeficiency with Next Generation Sequencing, but it is important for families to know that there is up to 60% chance that no molecular diagnosis may be found.
Mast cells
Mast cells talk presented by Dr. Theoharides.
Tryptase levels are only measured in 3 labs in the world. IL6 is a better indicator of disease severity than tryptase or histamine.
Dr T: a natural product mast cell inhibitor shows promising effects in their models: https://twitter.com/AndrewWCraig/status/1040970097093828608
Dr T ends with a slide with summary of the many dis are with mast cell involvement: https://twitter.com/AndrewWCraig/status/1040971491347619840
Tweets by:
David Fischer, MD @IgECPD
Mary McHenry MD @maryjmchenry
Loubna Akhabir @lakhabir
Andrew Craig @AndrewWCraig
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