Discover and read the best of Twitter Threads about #PrimaryImmunodeficiency
Most recents (4)
We have an exciting new #preprint on @medrxivpreprint ! A novel class of #primaryimmunodeficiency, with the discovery of ITPR3 mutations in two families with combined immunodeficiency. As always, studying #PID teaches us so much about biology! 1/8
medrxiv.org/content/10.110…
medrxiv.org/content/10.110…
The work is based on patients identified @UZLeuven by Rik Schrijvers and @IsabelleMeyts. Both patients had a combined #immunodeficiency with sensitivity to infections, one complicated by peripheral #neuropathy and one by #autoimmune hemolytic anemia. Over to the gene hunters! 2/8 
Mutations in ITPR3 were identified by Erika Van Nieuwenhove and Frederik Staels. ITPR3 is part of a #Calcium channel, so we turned to the Serysheva lab @Irina52948708 to predict the impact on structure. Clear as day, the mutations change the charge of the channel. 3/8
As we learn more about #COVIDvaccine #immune response in people w/ #immunedisorders, remember that not all #immunodeficiencies are created equal. You might see in the news claims about #vaccines not working in the #immunocompromised, but that's not always true. A 🧵
One of the earliest articles showed 15% of #transplant patients were Ab positive after dose 1. This increased to 54% after dose 2, but varied by medications being taken. bit.ly/3x00nyA and bit.ly/3cmfria
In #cancer patients, Ab response varied by type of cancer. Two studies showed 92-95% w/ solid tumors were Ab pos after the 2nd dose. One showed only 60% w/ hematological cancers were positive. bit.ly/34LseXc (both) bit.ly/3chrU6s (solid tumor only)
#RareDiseases are not rare. One example is Hyper-IgD Syndrome, an #autoinflammatory / #PrimaryImmunodeficiency disease. Wonderful collaboration extending over 5 years between Kozhikode Medical College, CMC Vellore and CSIR-IGIB as part of the #GUaRDIAN journals.plos.org/plosone/articl…
Our #genomic analysis suggests that a few variants account for the majority of the patients with HIDS in South #India with implications in #diagnosis, as well as in the development of cost-effective approaches for #genetic #diagnosis and #screening
@Primary_Immune @MoHFW_INDIA
@Primary_Immune @MoHFW_INDIA
🤔...Tonight I am wondering:
Do the lives of #rarediseases #PID patients matter as much as the lives of patients affected by more 'common' conditions such as #COVID__19 ?
Answer=YES
Do the lives of #rarediseases #PID patients matter as much as the lives of patients affected by more 'common' conditions such as #COVID__19 ?
Answer=YES
#hyperimmuneglobulins derived from plasma are under development and potentially could save the lives of people with severe forms of #COVID19. Isn't this great?
Answer= Yes!
Answer= Yes!
