News & Views: A new report in JHI from Catak et al. (hubs.la/Q04kK7NT0) deepens our understanding of human disease associated with loss of #CTLA4 (hubs.la/Q04kKhj40). Helen C. Su discusses the findings: hubs.la/Q04kKcpc0

Peters, Hauck et al. describe genetics and phenotypes of n = 48 DADA2 patients, supporting the hypothesis that patients with low residual ADA2 activity are prone to bone marrow failure, while high residual ADA2 activity correlates with vasculitis. hubs.la/Q04lBKQn0

In this Perspective, Yanes, McNaughton @UQ_News et al. present evidence-based guidelines from the Australasian Society of Clinical Immunology & Allergy to support clinicians in selecting patients with suspected #InbornErrorsOfImmunity for genomic testing. hubs.la/Q04lzb3H0

.@DeeptiSuri74 et al. @pgichd present evidence of a hidden threat in Wiskott Aldrich syndrome–large vessel vasculopathy, which can mimic Takayasu arteritis. Early recognition, vascular imaging, and definitive therapy are key to reducing mortality. hubs.la/Q04hWmMJ0

Allogeneic processed thymus tissue-agdc is approved therapy for treatment of congenital #athymia. Cresoe-Ortiz et al show changes in T lymphocyte subsets & T cell function. (1/2) hubs.la/Q04hWrvn0

Azzeddine Tahiat, @BogunovicLab et al. show that complement inhibition in #CHAPLE disease restores serum immunoglobulin levels, re-establishes a normal B cell profile, & enables effective humoral protection & optimal vaccine responses. hubs.la/Q04hWc7g0 #IEIs

Early genetic recognition and treatment with high-dose JAK inhibitors may improve outcomes in this devastating but potentially treatable interferonopathy. (2/2) rupress.org/jhi/article/2/4/…

Nima Parvaneh,@BustamanteJaci1 and colleagues study patients with STAT2 p.R148Q variant, who present with life-threatening #neuroinflammation, respiratory failure, and high mortality rate. (1/2) hubs.la/Q04j2MRt0

New human primary atopic disorder defined: @SimranKaurSamra and Sharma et al. @turveylab @UBC show OSMR deficiency disrupts OSM-STAT signaling, driving severe early-onset #eczema, #eosinophilia, and elevated IgE. hubs.la/Q04jcnX50 #Immunology #Genetics #Atopy #IEIs

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. hubs.la/Q04jprWY0 #HowITreat

This multiple-case study from O’Connor @IQVIA_global, Lopez @RocketPharma et al. explores the burdens of illness, caregiving, and treatment for five families with children with severe leukocyte adhesion deficiency, type I (LAD-I). hubs.la/Q04k4DNt0 #InbornErrorsOfImmunity

Mehmet Cihangir Çatak, Bernice Lo @SidraMedicine, Safa Baris @marmara1883 et al. describe the first case of homozygous #CTLA4 deficiency, which drives severe early-onset #autoimmunity through profound T and B cell dysregulation. hubs.la/Q04kKb-M0 #Diagnostics #Therapeutics

Lodi, Guarnieri, Ricci, et al. @UNI_FIRENZE report the use of #leniolisib, a PI3Kδ inhibitor, to treat a teenager with protein kinase C δ deficiency and progressive multiorgan immune dysregulation, expanding on leniolisib’s potential indications. hubs.la/Q04cTyjq0

New study from Bhattad, Singh, et al. analyzes the records of five Activated phosphoinositide 3-kinase δ syndrome 1 (APDS1) patients, representing the first case series of APDS1 from the Indian subcontinent. hubs.la/Q04d0MKR0 #InbornErrorsOfImmunity

HA20: an underrecognized #immunedysregulation disease affecting up to 1:14,000. Li, Schwartz et al. cover diagnosis, #biomarker-guided therapy with IL-1/TNF/JAK inhibitors, and family screening: hubs.la/Q04fhQH20 #HowITreat #raredisease #autoinflammatory #IEI #PIRD