Top Tweets for #ImmunoDeficiency
Excellent review from @IsabelleMeyts and colleagues in @jhumimmunity capturing the remarkable spectrum of #DADA2, from #vasculitis and #immunodeficiency to bone marrow failure. A powerful example of how understanding a single gene can transform diagnosis and treatment, from TNF inhibition and stem cell transplantation toward #GeneTherapy. #RareDisease #PrecisionMedicine #Immunology
In a new review on DADA2, @IsabelleMeyts et al. cover the full spectrum of disease (vasculitis, bone marrow failure, immunodeficiency), TNF inhibitors, stem cell transplant, & #genetherapy on the horizon, the concept that a single variant can cause disease https://t.co/3I0ku6T9nz
Keep Up The Good Fight my fellow Warriors. 🦾❤️ we got this. You matter, advocate for yourself. Subcutaneous Immunoglobulin currently going after 5 hours spent at the blood lab and cancer center earlier. #SubQIG #PID #immunodeficiency #IVIG
Lévy, Raedler, Hauck et al. show that allogeneic #HCT substantially addresses #immunodeficiency, immune dysregulation, & Epstein-Barr virus–positive smooth muscle tumors in patients with CARMIL2 deficiency and should be offered shortly following diagnosis https://t.co/ILHYDqHdwR
APDS is a rare inborn error of immunity classified as a group of combined #immunodeficiency; however, because specific treatments for APDS are available, early diagnosis and therapeutic intervention are crucial for improving patient prognosis. (1/2) https://t.co/DKVC1aPxVQ
New review by Jolles et al. considers the utility of calculated globulin as an unbiased & inexpensive screening tool for #immunodeficiency. The benefits and practicalities of its clinical implementation and current challenges and limitations are discussed. https://t.co/xylkxLtf56
In this Healio video, James Fernandez, MD, PhD, discusses the role of #targeted and #small #molecule therapies for treating certain patients with #primary #immunodeficiency, which he said have “expanded substantially.”
https://t.co/SOjGYGUQDs
Hyper IgE syndrome is a rare and syndromic primary #immunodeficiency. Murray, Grimbacher et al. propose clinical management guidelines for this multisystem condition based on the experience and management of these patients in the last 25+ years. https://t.co/6bIhc4hFA9
#HowITreat
#WAOJournal: Concurrent #hereditary #angioedema type I and #common #variable #immunodeficiency presenting as suspected #antibiotic #hypersensitivity: Case report and literature discussion. Open Access. https://t.co/OJtaLvgxdb
#Gene, #cell #therapies ‘most transformative advances’ in #primary #immunodeficiency care: in this video, James Fernandez, MD, PhD, discusses the latest advancements in gene and cell therapies for patients with primary immunodeficiencies.
https://t.co/xXkPCPqB64
#IVIG infusion yesterday with the best two healers on the planet by my side 🩵 home infusion has been so much better for both my mental health and infusion recovery
#immunodeficiency
Proud to see our work published in the @jhumimmunity!
I’m very grateful to Nidia Moreno and Sven Kracker for including me in this study on new WDR75 variants identified in a patient with B cell #immunodeficiency and #autism, where I am the second author
🔗https://t.co/foGvvc19i7
Moreno-Corona, Kracker et al. describe WDR75 variants in a patient with B cell immunodeficiency and #autism. Their findings suggest that altered #ribosome biogenesis may contribute to this rare presentation. https://t.co/c7dcgcXA7j
#RareDisease @institutimagine @ValagussaAlice
Centering Patients at the Heart of the IPPC 2026 Congress - Marilena Vrana (@marilenavrana)
@PlasmaProteins | @PPTAEurope
https://t.co/xA5nI9f44e
#Health #Hematology #Hemostasis #HemostasisNews #HemostasisToday #Immunodeficiency #IPPC2026 #Medicine #PDMPs #Pediatrics #Plasma #MedX #GeneTherapy #TransfusionMedicine #MedEd
A rare RIPK1‑related immunodeficiency case 🧬
A new #casereport describes a novel #RIPK1 #PathogenicVariant causing a unique combination of #immunodeficiency, #autoimmunity, and #inflammation.
✔️ Recurrent respiratory infections since infancy
✔️ Hypogammaglobulinemia + lymphopenia
✔️ Adult-onset autoimmune #cytopenia and lymphoid #hyperplasia
✔️ Functional studies revealed altered #cytokine responses and a distinctive inflammatory pattern
🔍 This case underscores the critical importance of #EarlyGeneticDiagnosis in children with atypical immune presentations — enabling timely, targeted treatment and preventing decades of #morbidity.
Know more, here: 🔗 https://t.co/v3jY8jnHAv
.
#pai_journal #originalarticle #respiratoryinfections #Hypogammaglobulinemia #lymphopenia #autoimmunecytopenia #lymphoidhyperplasia #cytokineresponses #distinctiveinflammatorypattern #atypicalimmunepresentations #RIPK1relatedimmunodeficiency #therapeuticpattern
Founder and CEO of Rarity PBC, Dr. Paul Ayoub, highlighted the transformative power that #GeneTherapy has had for patients with #ADASCID, a type of severe combined #immunodeficiency.
Proof that the return on investment in #RareDisease therapies is priceless. #NORDSymposium
Another infusion in the books 🫶🏼🐾 time to rest, recover, and hydrate so I can be a functional human again 😄🩵
#immunodeficiency #ivig #infusion
Rethinking disomy: Autosomal expression bias and personal evolution. New review from Dusan Bogunovic @BogunovicLab @KidsAtColumbia @ColumbiaMed: https://t.co/BFpMPKPfpw
#Immunodeficiency #HumanDiseaseGenetics #GenesAndImmunity
The Immune Deficiency Foundation (@immunedeficienC) is one of more than 350 #NORD Member patient advocacy organizations! We're proud to work together to further each other's goals across #RareDiseases.
Are you impacted by primary #immunodeficiency? If so, give them a follow!
Today is Rare Disease Day! 🦓 This #RareDiseaseDay we reflect on the strength and resilience of individuals living with primary immunodeficiency. Together, we are making the invisible visible.
Insights: Lawrence Kane @pitt_immunology provides commentary on a new study from Golec et al. (https://t.co/iQ3MPhjFht), which reports that a mutation of PI-3 kinase underlying APDS impairs type 2 immunity. https://t.co/du6wpoYwCi
#Immunodeficiency #LymphocyteBiology
A PI3Kd-Foxo1-FasL signaling amplification loop rewires CD4+ T cell signaling and differentiation. New study from Dominic P. Golec, Pamela L. Schwartzberg and colleagues @NIAIDNews: https://t.co/7g3RHccLg2
#Immunodeficiency #LymphocyteBiology
🫁🔥 Bronchiectasis Exacerbation – Hematology-Focused Pearls
#Bronchiectasis #Hematology #Transplant #Immunodeficiency #AdultHematology #ESHEmiratesHematologySociety
⸻
🎯 Definition
1️⃣ Acute clinical deterioration
2️⃣ ↑ cough
3️⃣ ↑ sputum volume or purulence
4️⃣ Dyspnea ± fever
5️⃣ Need for antibiotic therapy
⸻
🧬 Why Hematologists Should Care?
6️⃣ SCT patients at high risk
7️⃣ CLL & lymphoma → hypogammaglobulinemia
8️⃣ MM → impaired humoral immunity
9️⃣ Post-CAR-T → B-cell aplasia
🔟 Prolonged steroids → infection-prone lungs
⸻
🦠 Common Infectious Causes
1️⃣1️⃣ Pseudomonas aeruginosa (most important chronic pathogen)
1️⃣2️⃣ Haemophilus influenzae
1️⃣3️⃣ Streptococcus pneumoniae
1️⃣4️⃣ Moraxella catarrhalis
1️⃣5️⃣ Staph aureus
⸻
🧫 Resistant & Special Context
1️⃣6️⃣ MDR gram-negatives in neutropenia
1️⃣7️⃣ ESBL organisms
1️⃣8️⃣ Post-SCT → invasive fungal infection
1️⃣9️⃣ Aspergillus spp.
2️⃣0️⃣ NTM (non-tuberculous mycobacteria)
⸻
🦠 Viral Triggers
2️⃣1️⃣ RSV
2️⃣2️⃣ Influenza
2️⃣3️⃣ SARS-CoV-2
2️⃣4️⃣ Parainfluenza
⸻
🩸 Hematology-Specific Risk Amplifiers
2️⃣5️⃣ Neutropenia
2️⃣6️⃣ Lymphopenia
2️⃣7️⃣ Hypogammaglobulinemia (IgG <400–500)
2️⃣8️⃣ GVHD lung involvement (BOS overlap)
2️⃣9️⃣ Long-term immunosuppression
3️⃣0️⃣ Iron overload
⸻
⚖️ Non-Infectious Triggers
3️⃣1️⃣ Aspiration
3️⃣2️⃣ Mucus plugging
3️⃣3️⃣ Pulmonary hemorrhage
3️⃣4️⃣ Drug-induced pneumonitis
3️⃣5️⃣ CTD-associated lung disease
⸻
🧪 Workup (Heme Context)
3️⃣6️⃣ CBC with differential
3️⃣7️⃣ CRP / Procalcitonin
3️⃣8️⃣ Sputum culture (target Pseudomonas)
3️⃣9️⃣ Fungal biomarkers (if SCT)
4️⃣0️⃣ CT chest if severe
⸻
💊 Management Pearls
4️⃣1️⃣ Cover prior colonizing organisms
4️⃣2️⃣ IV anti-pseudomonal therapy if severe
4️⃣3️⃣ Add antifungal if high-risk SCT
4️⃣4️⃣ Consider IVIG in hypogammaglobulinemia
4️⃣5️⃣ Airway clearance essential
4️⃣6️⃣ Nebulized antibiotics in chronic colonization
⸻
🚨 Red Flags in Hematology
4️⃣7️⃣ Neutropenic fever + bronchiectasis
4️⃣8️⃣ Sudden hemoptysis
4️⃣9️⃣ Hypoxia refractory to oxygen
5️⃣0️⃣ Rapid deterioration post-transplant
⸻
📝 MCQ
Most important pathogen in recurrent bronchiectasis exacerbation in immunocompromised host?
A) S. pneumoniae
B) Pseudomonas aeruginosa
C) Candida
D) EBV
✅ Answer: B
⸻
🎭 OSCE Scenario
Post-allo SCT patient, IgG 320, purulent sputum, prior Pseudomonas colonization.
👉 Start anti-pseudomonal IV regimen
👉 Send cultures
👉 Check IgG → give IVIG
👉 Optimize airway clearance
⸻
🔥 Bottom Line
In hematology patients, bronchiectasis exacerbation =
Think Pseudomonas + immune deficiency + early aggressive therapy.
#Infection #SCT #CLL #CAR_T #PulmonaryComplications
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