#ClinicalPhenotypes
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jhumimmunity.org
Mosaic #KRAS variants in childhood-onset systemic #lupus erythematosus. New study from Hitoshi Irabu, Masaki Shimizu (Institute of Science Tokyo) and colleagues:
rupress.org/jhi/article/...

#Autoimmunity #ClinicalPhenotypes #SLE
October 30, 2026 at 7:45 PM
jhumimmunity.org
Work participation in #InbornErrorsOfImmunity: The dual burden on patients and caregivers. New study from Federica Pulvirenti (Sapienza University Hospital Policlinico Umberto I) and colleagues:
rupress.org/jhi/article/...

#Therapeutics #ClinicalPhenotypes
October 29, 2026 at 1:31 PM
jhumimmunity.org
Genotype–phenotype analysis in 333 individuals with heterozygous variants in NFKB1. New study from Sophia Marie Armbruster, Bodo Grimbacher @uni-freiburg.de and colleagues: rupress.org/jhi/article/...

#ClinicalPhenotypes
October 26, 2026 at 3:31 PM
jhumimmunity.org
Higher serum sCD14 is an independent biomarker for porto-sinusoidal vascular disease risk in #CVID. New report from Laure Delaval, Guy Gorochov, Marion Malphettes @sorbonne-universite.fr @upcite.bsky.social and colleagues:
rupress.org/jhi/article/...

#ClinicalPhenotypes #InbornErrorsOfImmunity
October 23, 2026 at 1:31 PM
jhumimmunity.org
IRF4 p.T95R combined #immunodeficiency: Clinical features and transplant outcomes. New study from Mattison P. Stojcic, Stuart E. Turvey (@turveylab.bsky.social, BC Children's Hospital, Vancouver) and colleagues:
rupress.org/jhi/article/...

#InbornErrorsOfImmunity #ClinicalPhenotypes #HSCT
October 16, 2026 at 7:30 PM
jhumimmunity.org
Management change following NGS diagnosis of inborn errors of immunity: The Australasian experience. Shruti Swamy, Paul E. Gray, Stuart G. Tangye and colleagues:
rupress.org/jhi/article/...

#ClinicalPhenotypes #Therapeutics #InbornErrorsOfImmunity #Diagnostics
October 8, 2026 at 1:30 PM
jhumimmunity.org
Temporal windowing of recurrent sinusitis improves EHR-based #immunodeficiency classification. New study from Aaron T Chin (UCLA) and colleagues:
rupress.org/jhi/article/...

#IEIs #Phenocopies #ClinicalPhenotypes #Diagnostics
September 7, 2026 at 7:30 PM
jhumimmunity.org
Aaron T. Chin et al. develop a temporal windowing methodology that groups recurrent sinusitis encounters into discrete episodes in electronic health records and improves #immunodeficiency classification. rupress.org/jhi/article/...

#IEIs #Phenocopies #ClinicalPhenotypes #Diagnostics
August 31, 2026 at 4:02 PM
infdiseasesnow.bsky.social
1➡️Un article original relatant l’étude des phénotypes d’une cohorte de 168 patients atteints de tuberculose du système nerveux central.

www.sciencedirect.com/science/arti...

#IDSky #IDSkyFr #CentralNervousSystemTuberculosis #ClinicalPhenotypes #AnergicPhenotype #ZoonoticExposure #Immunosuppression
June 1, 2026 at 12:54 PM
infdiseasesnow.bsky.social
[Publication] The article "Central nervous system tuberculosis in Tunisia: clinical phenotypes from a 14-year cohort" is now available.

www.sciencedirect.com/science/arti...

#IDsky #CentralNervousSystemTuberculosis #ClinicalPhenotypes #AnergicPhenotype #ZoonoticExposure #Immunosuppression
Central nervous system tuberculosis in Tunisia: clinical phenotypes from a 14-year cohort
Central nervous system (CNS) tuberculosis is associated with high mortality, neurological sequelae, diagnostic delay, and heterogeneous clinical spect…
www.sciencedirect.com
May 13, 2026 at 7:30 AM
jhumimmunity.org
Clinical, genetic, and immunologic features of APS-1 patients from the Middle East, and a review of the literature. New study from Elsa Lamah, Michel J. Massaad (American University of Beirut) and colleagues:
rupress.org/jhi/article/...

#Autoimmunity #InbornErrorsOfImmunity #ClinicalPhenotypes
August 10, 2026 at 1:45 PM
jhumimmunity.org
Mehmet Cihangir Catak, Bernice Lo, Safa Baris et al. describe the first case of homozygous #CTLA4 deficiency, which drives severe early-onset #autoimmunity through profound T and B cell dysregulation. rupress.org/jhi/article/...

#ClinicalPhenotypes #Diagnostics #Therapeutics
June 9, 2026 at 4:00 PM
jhumimmunity.org
Adult-onset STING-associated vasculopathy. New study from Thomas R. Riley, Jonathan J. Kotzin, Amanda V. Finck, Jonathan J. Miner and colleagues (UPenn Perelman School of Medicine):
rupress.org/jhi/article/...

#Autoimmunity #ClinicalPhenotypes #ImmunologicalPhenotypes #InbornErrorsOfImmunity
May 18, 2026 at 2:30 PM
jhumimmunity.org
Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variants. New study from Nidia Moreno-Corona, Sven Kracker @institutimagine.bsky.social and colleagues:
rupress.org/jhi/article/...

#RareDisease #ClinicalPhenotypes #InbornErrorsOfImmunity
May 13, 2026 at 2:30 PM
jhumimmunity.org
X-linked SEPTIN6-related congenital neutropenia and B cell deficiency. new study from Lauren M. Gunderman, Eric J. Allenspach and colleagues @seattlechildrens.org:
rupress.org/jhi/article/...

#InbornErrorsOfImmunity #ClinicalPhenotypes #Septins #Bcells
May 11, 2026 at 3:03 PM
jhumimmunity.org
#Fibroblast-driven #collagen expansion and altered thymic medullary niches in 22q11.2 deletion syndrome. New study from Viktoria Hennings, Olov Ekwall and colleagues (University of Gothenburg):
rupress.org/jhi/article/...

#InbornErrorsOfImmunity #ClinicalPhenotypes #Thymus
May 11, 2026 at 2:30 PM
jhumimmunity.org
Gunderman, Allenspach et al. @seattlechildrens.org share the second report of X-linked SEPTIN6-related disease in two brothers identified by #SCID newborn screening. rupress.org/jhi/article/...

#Septins #IEI #InbornErrorsofImmunity #ClinicalPhenotypes #Bcells
May 4, 2026 at 5:30 PM
jhumimmunity.org
Multigenerational SOCS1 insufficiency: Implications for the pathogenesis of allergic and autoimmune disease. New report from Cliodhna Murray (Galway University Hospital) and colleagues: rupress.org/jhi/article/...

#Autoimmunity #ClinicalPhenotypes #Atopy
April 16, 2026 at 3:17 PM
jhumimmunity.org
#KawasakiDisease complicated by #macrophage activation syndrome treated with #canakinumab. New study from Stejara A. Netea and colleagues @amsterdamumc.bsky.social:
rupress.org/jhi/article/...

#ClinicalPhenotypes #Therapeutics
April 16, 2026 at 2:15 PM
jhumimmunity.org
Except the unexpected: A TIPIC syndrome in a child with #IPEX. New report from Vincent Fréret, Agathe Escudier and colleagues @hopitalnecker.bsky.social:
rupress.org/jhi/article/...

#ImmunologicalPhenotypes #InbornErrorsOfImmunity #ClinicalPhenotypes #Diagnostics #FOXP3
April 1, 2026 at 1:30 PM
jhumimmunity.org
Unmanipulated bone marrow infusion without conditioning can rescue RECQL4-/- severe combined immunodeficiency. New study from Alexandra Grier and colleagues @chopresearch.bsky.social: rupress.org/jhi/article/...

#ClinicalPhenotypes #immunodeficiencies #InbornErrorsOfImmunity #SCID #HSCT
March 13, 2026 at 1:45 PM
jhumimmunity.org
Quality of life of X-linked agammaglobulinemia patients in the United Kingdom. New study from Ben Shillitoe @sheffieldchildrens.bsky.social and colleagues: rupress.org/jhi/article-...

#ClinicalPhenotypes #ImmunologicalPhenotypes #InbornErrorsOfImmunity
February 26, 2026 at 2:30 PM
jhumimmunity.org
Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency. New research letter from Chen Wang, Alexandra Freeman and colleagues @niaidnews.bsky.social: rupress.org/jhi/article/...

#Autoimmunity #Atopy #ClinicalPhenotypes #InbornErrorsOfImmunity
@clinimmsoc.bsky.social
Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency | Journal of Human Immunity | Rockefeller University Press
PGM3 deficiency is a multisystem disorder characterized by recurrent infections, chronic severe neutropenia, and virus-associated malignancies, often leadi
rupress.org
December 19, 2025 at 2:45 PM
jhumimmunity.org
A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations. New study from Michelle Ducasa, Rebecca Marsh and colleagues: rupress.org/jhi/article/...

#ClinicalPhenotypes #InbornErrorsOfImmunity #Autoimmunity
October 31, 2025 at 6:45 PM
jhumimmunity.org
A heterozygous USB1 variant linked to #immunodeficiency. New study from Alice Valagussa, Sven Kracker and colleagues @institutimagine.bsky.social @inserm.fr: rupress.org/jhi/article/...

#Diagnostics #InbornErrorsOfImmunity #ClinicalPhenotypes
October 29, 2025 at 2:15 PM