#FOXP3 deep intronic variant underlying #IPEX. New report from Pierre Gaufryau, Marie-Claude Stolzenberg, Jérémie Rosain @jrosain.bsky.social et al. @hopitalnecker.bsky.social @institutimagine.bsky.social: rupress.org/jhi/article/... #Atopy #Diagnostics #Autoimmunity #InbornErrorsOfImmunity

Allogeneic hematopoietic cell transplantation is curative in CARMIL2 deficiency. New study from Johannes Raedler, Romain Lévy @hopitalnecker.bsky.social, Fabian Hauck @lmu.de and colleagues: rupress.org/jhi/article/... #immunodeficiencies #InbornErrorsOfImmunity #HCT

How I Treat: Diagnostic clues and treatment for activated phosphoinositide 3-kinase delta syndrome. Hirokazu Kanegane @sciencetokyo_en, Dan Tomomasa, and Satoshi Okada propose “10 Warning Signs of APDS” for the early clinical detection of APDS: rupress.org/jhi/article/... #HowITreat #IEIs

In a new review on DADA2, @isabellemeyts.bsky.social 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. rupress.org/jhi/article/...

Lamah, Massaad et al. identify three novel mutations in AIRE and detect T cell defects in patients with APS-1. Furthermore, they review the literature and identify additional clinical features, and define mutational hotspots suitable for targeted sequencing rupress.org/jhi/article/... #Autoimmunity

The importance of tailored conditioning for hematopoietic stem cell transplantation in children with Mendelian susceptibility to mycobacterial disease: A tale of two pathways for IFN-γ and IL-12 defects. From Kavitha Ganesan et al. (Apollo Hospitals India): #InbornErrorsofImmunity #Mycobacteria

🌐 All Journal of Human Immunity (JHI) articles are now discoverable on #PubMed and PubMed Central. Authors benefit from immediate, zero-embargo access under a CC-BY license, plus links directly back to the version of record. Learn more about publishing with JHI: 👉 rupress.org/jhi/pages/pm...

Giardino et al report the first detailed immunological characterization of a DEGCAGS patient, showing that biallelic ZNF699 loss-of-function variants can cause syndromic combined #immunodeficiency & DNA methylation profiling improves diagnostic precision in selected #IEIs rupress.org/jhi/article/...

Does CVID exist in children? A genetic architecture and manifestation map derived from 7,525 patients. New study from Antonios Gkantaras, ESID Registry Working Party @esidsociety.bsky.social, and Markus G. Seidel @seidellab.bsky.social: rupress.org/jhi/article/... #InbornErrorsOfImmunity #IEIs

Gaufryau, Stolzenberg, @jrosain.bsky.social et al. report a deep intronic #FOXP3 pathogenic variant that was investigated by RNA sequencing in heterozygous female carriers. rupress.org/jhi/article/... #Atopy #Diagnostics #Autoimmunity #InbornErrorsOfImmunity #IPEX

Lévy, Raedler, Hauck @lmu.de et al. show that allogeneic #HCT substantially addresses #immunodeficiency, immune dysregulation, and Epstein-Barr virus–positive smooth muscle tumors in patients with CARMIL2 deficiency and should be offered shortly following diagnosis. rupress.org/jhi/article/...

A case of progressive multifocal leukoencephalopathy in an adult patient with ADA-#SCID. New report from Hannah Shin, Jonathan J. Lyons @ucsandiego.bsky.social and colleagues: rupress.org/jhi/article/... #immunodeficiencies #InbornErrorsOfImmunity

APDS is a rare inborn error of immunity classified as a group of combined #immunodeficiency; however, Kanegane et al. show that, because specific treatments for APDS are available, early diagnosis and therapeutic intervention are crucial for improving patient prognosis. rupress.org/jhi/article/...

Hematopoietic stem cell transplantation is a curative option for children w/ MSMD. Ganesan et al. show that outcomes improve when conditioning is tailored to genetic defects: Flu/Treo for IL-12 deficiency & Flu/Treo/TT w/ pretransplant immunosuppression for IFN-γ defects. #InbornErrorsOfImmunity

See what can be learned from real-world documentation in the @esidsociety.bsky.social patient registry baseline dataset about #cvid the most common #iei - Thanks to all contributors and Antonios Gkantaras:

Journal of Human Immunity@jhumimmunity.org · 2w ago

Does CVID exist in children? @esidsociety.bsky.social registry analysis of 7,525 CVID patients shows age-dependent enrichment of monogenic #IEI in pediatric & early-onset CVID-like disease, supporting genetic testing and longitudinal reassessment. rupress.org/jhi/article/... @seidellab.bsky.social

Does CVID exist in children? @esidsociety.bsky.social registry analysis of 7,525 CVID patients shows age-dependent enrichment of monogenic #IEI in pediatric & early-onset CVID-like disease, supporting genetic testing and longitudinal reassessment. rupress.org/jhi/article/... @seidellab.bsky.social

Second-tier genetics improves newborn screening accuracy for #SCID and other T-cell deficiencies. New study from Annelotte J. Duintjer, Mirjam van der Burg (@unileiden.bsky.social) and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity #immunodeficiencies

Implementing calculated globulin screening for #immunodeficiencies: The benefits and challenges. New review from Stephen Jolles (University Hospital of Wales) and colleagues: rupress.org/jhi/article/... #Diagnostics #InbornErrorsOfImmunity

🔔 We're delighted to share the Abstracts from the Primary Immune Deficiency Treatment Consortium #PIDTC (@pidtc.bsky.social) Annual Workshop which took place this March in Salt Lake City. Explore the latest advancements in #PID clinical practice and research! 👉 rupress.org/jhi/issue/2/...

Clinical considerations for immune dysregulation and immunodeficiency in #DownSyndrome. New review from Melissa Gans (University of Miami Miller School of Medicine), Joaquin Espinosa @cuanschutz.bsky.social and colleagues: rupress.org/jhi/article/... #InbornErrorsOfImmunity #Therapeutics

This case report from Shin, Lyons et al. @ucsandiego.bsky.social describes progressive multifocal leukoencephalopathy in a patient with ADA-#SCID who received early #GeneTherapy, highlighting the importance of lifelong monitoring after early gene therapy protocols. rupress.org/jhi/article/...

🌐 Following successful technical and scientific reviews, Journal of Human Immunity (JHI) content is now fully discoverable on #PubMed Central. Read our #OpenAccess back catalog and future issues here: 👉 pmc.ncbi.nlm.nih.gov/search/?term... Read the announcement: 👉 rupress.org/jhi/pages/pm...

New review from Stephen Jolles et al. considers the utility of calculated globulin as an unbiased and inexpensive screening tool for #immunodeficiency. The benefits and practicalities of its clinical implementation and current challenges and limitations are discussed. rupress.org/jhi/article/...

Duintjer, van der Burg et al. demonstrate that second-tier genetics improves newborn screening accuracy for #SCID and other T cell deficiencies. A safety net algorithm maintains high sensitivity for SCID while substantially increasing the PPV from 22.1% to 55.2%. rupress.org/jhi/article/...

#DownSyndrome is characterized by lifelong immune dysregulation. In this review, Melissa Gans, Joaquin Espinosa and colleagues describe clinical considerations toward monitoring, management, and therapeutic opportunities. rupress.org/jhi/article/... #InbornErrorsOfImmunity #Therapeutics

TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT. From Giulia Prunotto, Giovanna Lucchini (IRCCS San Gerardo dei Tintori) and colleagues: rupress.org/jhi/article/... @theebmt.bsky.social #InbornErrorsOfImmunity

🔔 We're delighted to share the Abstracts from the Primary Immune Deficiency Treatment Consortium #PIDTC (@pidtc.bsky.social) Annual Workshop which took place this March in Salt Lake City. Explore the latest advancements in #PID clinical practice and research! 👉 rupress.org/jhi/issue/2/...

Newborn screening reduces survival disparities in #SCID after stem cell transplant: A #PIDTC report. New study from Lena E. Winestone @ucsfchildrens.bsky.social, Elie Haddad @chusaintejustine.bsky.social and colleagues: rupress.org/jhi/article/... #Diagnostics #InbornErrorsOfImmunity

Chronic granulomatous disease: A multicenter study from the MENA region. New study from Salem Al-Tamemi (Sultan Qaboos University, Oman) and colleagues: rupress.org/jhi/article/... #CGD

Prunotto, Lucchini et al. describe clinical presentation, immunological status, treatment, & long-term outcomes of a large cohort of pediatric and adult patients affected by an extremely complex and rare immunodeficiency known as #TTC7A deficiency. rupress.org/jhi/article/... #InbornErrorsOfImmunity