‘Australia without migrant workers’
Who made this? 👏
Mandatory viewing for any fool who still doesn’t understand the implications of slamming the gates shut.
It was great to collaborator yet again with @ryangrui, many friends in the @casanova_lab, my long term collaborator @DrCindyMa, @GuerinAntoine6 to help bring this paper to fruition. Science really is amazing ! 🧬 🧪
1/ Delighted to share our paper in @JExpMed today, led by @IrisFagniez and @ryangrui, two trainees who have both recently started exciting new chapters in their careers: MD-PhD training at @harvardmed@MIT and Assistant Professorship at @bcmhouston!
https://t.co/Ha3CD87B9l
Happy to see this out in @jhumimmunity. DADA2 has moved a long way from its first description as an early-onset stroke and vasculitis syndrome. In this review we take stock of where the field stands.
.@bogunoviclab et al. show that, in a neonate with a DOCK11 variant of uncertain significance, negative functional studies guide clinical care, highlighting the broader value of publishing instructive negative findings in immunology & genomic medicine https://t.co/GUHPFXnpU5
Kienapfel et al. report the characterization of two novel mutations underlying #STAT2 deficiency in three patients with viral infections & hyperinflammation following live viral vaccines. Beneficial use of ruxolinitib in one patient is also reported. https://t.co/bl1LVuGAKT
Latest from us. :) Led by amazing Pat O’Connell. We, more often than not, see variants of unknown significance (VUSs), and by definition don’t know if they are causative of disease. The only way to exclude them as causative is to test them experimentally. https://t.co/Ht64HZnx3k
1/ Spotlighting our former trainee @alexyema - a clinician-scientist specializing in IEI and cellular therapies @ UCL Great Ormond Street Institute of Child Health (GOSICH). She is also an Honorary Consultant in Paediatric Immunology at Great Ormond Street Hospital (GOSH), London
New human inborn error of immunity!
By identifying biallelic OSMR deficiency as a novel Primary Atopic Disorder, we uncover a previously unrecognized mechanism driving severe allergic disease and provide new insights into the biology of human atopy.
Latest from us. Led by amazing Azzeddine Tahiat. Novel forms of CD55 deficiency. Importantly, C5 inhibition restores B cell homeostasis #CHAPLE disease @KidsAtColumbia@ColumbiaPS@Columbia https://t.co/kCLsKKHSZX
Earlier this month, the JMF team traveled to New Orleans for the Clinical Immunology Society (CIS) Annual Meeting, bringing together physicians, scientists, advocates, patients, and families from around the world to advance the future of clinical #immunology.
During the meeting, JMF Scientific Director Jessica Quinn presented a poster highlighting findings from an upcoming publication on the Jeffrey’s Insights genetic sequencing program.
We were proud to see our WINMD Grant recipients attending and presenting research posters at CIS. Supporting the next generation of researchers and innovators in immunology remains a vital part of JMF’s mission.
While in New Orleans, we also hosted an in-person meeting of our Patient & Family Advisory Board (#PFAB), uniting patients and families affected by STAT1 GOF, STAT3 GOF, and JAK1 GOF to help create educational resources that truly reflect and amplify the patient experience.
We are honored to continue supporting collaboration, research, education, and patient advocacy within the global PI community 💙
#CIS2026 #ClinicalImmunology #PrimaryImmunodeficiency #PICommunity #RareDisease #PatientAdvocacy #NOLA #JMFPFAB
I am proud and honored to be a CPRIT Scholar. My lab will open at @bcmhouston and @TexasChildrens in August 2026.
Please check out what we study: https://t.co/ykaxQIdMvm
We are always excited to work with energetic and motivated trainees.
A major step forward for the Primary Immunodeficiency community 💙
The U.S. Food and Drug Administration has approved a new gene therapy for Wiskott-Aldrich syndrome – offering a potentially long-lasting treatment that uses a patient’s own cells to help restore immune function.
For patients and families, this represents more than just scientific progress – it’s hope for safer, more effective care and a future with fewer infections and complications.
Advances like this highlight the power of research, innovation, and advocacy in changing lives.
Read the press release here: https://t.co/LydBpHYOEU
#PrimaryImmunodeficiency #PIAwareness #GeneTherapy #FDAApproval #Immunology #MedicalInnovation
Terrific work by @ErikaDellaMina1 identifying a novel pathogenic CARD9 variant, & identifying CD4 T cell defects that likely contribute to CMC in this and other CARD9 def patients.
Since the first description of inherited CARD9 deficiency in 2009, nearly 100 patients with biallelic germline #CARD9 mutations have been reported.
https://t.co/xW61N5Jkt6
Here, Erika Della Mina @ErikaDellaMina1 & team @GarvanInstitute report on a patient with severe #FungalInfections carrying a novel homozygous nonsense CARD9 variant (c.673A>T/p.K225*) that results in a truncated protein unable to mediate innate immunity, CD4+ T cell intrinsic IL-17 immunity, and Candida-specific T-cell response.
The figure: Identification of a novel homozygous nonsense K225*/K225* variant in CARD9 in a single patient with recurrent fungal infections.