Dr Jack Routes presented an update in clinical immunology.
1. CVID registry - JACI 134: 116. They found early onset was actually common, with 34% before age 10! But diagnostic delay varies in different European countries. CVID patients get lymphomas and they are almost always B cell lymphomas, patients should also get CT chest to screen for bronchiectasis. Non-infectious complication may not be assoc with increased mortality (Dr Routes doubts this). Higher IgG trough levels were associated with less serious infections, early onset CVID was more common than previously recognized.
2. PI(3)K mutations leading to T cell senescence and human immunodeficiency - Science 342; 85. PI3KD disease sort of looks like CVID and/or Hyper-IgM, probably more common than previously identified.
3. Reduced intensity condition and HLA-matched HSCT in patients w/CGD - Lancet 383; 436. May be we need to rethink BMT for CGD, and consider early transplantation instead of prophylactic therapy.
4. Clinical features of candidiasis in patients with IL12b1 deficiency - Clin Infect Dis 58; 204. If there is a recurrent/persistent oropharyngeal candidiasis in a young person, think of IL12Rb1 deficiency. Dr Bowdish: “I had to temporarily stop live-tweeting the Routes to be able to take in the beauty and complexity of STAT1 mutations. Sorry!” The current complexity of immunodeficiency is due to genetic heterogeneity, variable expressivity and allelic heterogeneity.
This is a Twitter summary from 2014 #ACAAI meeting. The post is a part of series. See the rest here: http://allergynotes.blogspot.com/search/label/ACAAI
The Twitter summary was made possible by @MatthewBowdish
Several allergists did a great job posting updates from the 2014 meeting of the #ACAAI. I used the website “All My Tweets” to review the tweets. For comparison, here are the tweets from previous #ACAAI meetings (scroll down the page for the past years): http://allergynotes.blogspot.com/search/label/ACAAI