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

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

Client Challenge

Phenotypic overlap between atopic dermatitis and autism [2021]
link.springer.com/article/10.1...

#atopy #eczema #AtopicDermatitis #allergy #autism #immunology

Atopy and Elevation of IgE, IgG3, and IgG4 May Be Risk Factors for Post COVID-19 Condition in Children and Adolescents - PubMed SARS-CoV-2 infection causes transient cardiorespiratory and neurological disorders, and severe acute illness is rare among children. Post COVID-19 condition (PCC) may cause profound, persistent phenot...

Concurrent Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) was found in 29% of patients that also faced challenges in school attendance. #ME/CFS manifestation was significantly associated with elevated immunoglobulin G subclasses IgG3 (p < 0.05) and IgG4 (p < 0.05) #Atopy #LongCOVIDKids

Association between atopic disorders and mental ill health: a UK-based retrospective cohort study - PubMed There is an increased risk of mental ill health disorders among patients with diagnosis of an allergic and atopic disorders. There is a need to consider dual delivery of allergy and psychology service...

Dual delivery of allergy and psychology services needed to optimise mental well-being #allergy #eczema #asthma #atopy
pubmed.ncbi.nlm.nih.gov/40449946/

Horesh et al. @bogunoviclab.bsky.social show that individuals with JAK1 variants are affected by syndromic features encompassing #autoimmunity, #atopy, #colitis, and #dermatitis. rupress.org/jem/article/...

📘In Genes & Immunity collection: rupress.org/jem/collecti...
#HKS2025

Congratulations to past Hill Lab member Stan on his excellent #AAAAI25 presentation on #atopy, #dupilumab, and #autoimmunity!

Novel #IEI due to biallelic variants in the gene coding for Integrin alpha V #ITGAV, incomplete loss of function variants cause neurodevelopmental defects, colitis, and features of #atopy
#pediatricdermatology #genetics #rare diseases