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ASSESSMENT OF TREC-BASED NBS SCID REPORTING PRACTICES FOR HARMONIZATION OF RESULTS AND INTERPRETATION: A GLOBAL SURVEY Newborn screening (NBS) for severe combined immunodeficiency (SCID) using T cell receptor excision circles (TREC) in dried blood spots (DBS) has been implemented in the U.S. and many other regions and...

Assessment of trec-based nbs scid reporting practices for harmonization www.jaci-inpractice.org/article/S221... #hvhebron #upiip

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Clinical and Economic Implications of Immunoglobulin Use Under Restrictive Conditions in Adult Patients With Neurological Diseases and Immunodeficiencies in Spain This study analyzes nationwide hospitalization data from Spain to evaluate the clinical and economic impact of restrictive immunoglobulin access in neurological disorders and immunodeficiencies. Usin...

Clinical and Economic Implications of Immunoglobulin Use Under Restrictive Conditions in Adult Patients With Neurological Diseases and Immunodeficiencies in Spain onlinelibrary.wiley.com/doi/10.1111/... #hvhebron #far #upiip [Text complet] @europeanjournalofneurology.ean.org

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Use of Long-Acting therapies for the HIV treatment in the Spanish Pediatric Cohort (CoRISpe) Adolescents and young adults living with HIV (AYHIV) face complex psychosocial and adherence challenges that compromise long-term treatment success. L…

Use of Long-Acting therapies for the HIV treatment in the Spanish Pediatric Cohort (CoRISpe) www.sciencedirect.com/science/arti... #hvhebron #upiip #malinf [Text complet]

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Frontiers | Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity IntroductionNext-generation sequencing (NGS) has transformed the genetic diagnosis of human diseases, yet many patients remain unsolved due to the complexity...

Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity www.frontiersin.org/journals/gen... #hvhebron #upiip #imm #gen [Text complet]

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Contextual dimensions of pediatric tuberculosis imaging: radiation exposure, access, and system capacity in high- and low-resource settings - Pediatric Radiology Background Pediatric tuberculosis diagnosis relies heavily on imaging, yet access, equipment standards, and dose monitoring differ widely across health systems. Evidence describing how these contextua...

Contextual dimensions of pediatric #tuberculosis imaging: radiation exposure, access, and system capacity in high- and low-resource settings link.springer.com/article/10.1... #hvhebron #rad #upiip [Text complet]

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Inborn errors of immunity at school: How can we do better? Adolescents with inborn errors of immunity face school challenges across adaptation, understanding, coordination, and socialization. In a multi-informant s

Inborn errors of immunity at school: How can we do better? rupress.org/jhi/article/... #hvhebron #upiip [Text complet]

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Clinical and epidemiological features of schistosomiasis among sub-Saharan African migrants in Barcelona, Spain: a retrospective observational study - Infectious Diseases of Poverty Schistosomiasis is a neglected tropical disease, affecting 253 million people worldwide. This study aimed to describe the clinical and epidemiological characteristics of schistosomiasis in sub-Saharan...

Clinical and epidemiological features of schistosomiasis among sub-Saharan African migrants in Barcelona, Spain: a retrospective observational study link.springer.com/article/10.1... #hvhebron #malinf #micro #upiip [Text complet]

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Proceedings of the second Artificial Intelligence in Primary Immunodeficiency (AIPI) meeting The use of artificial intelligence (AI) in inborn errors of immunity offers transformative potential in diagnostics and disease management but faces multiple challenges that were discussed at the seco...

Proceedings of the second Artificial Intelligence in Primary Immunodeficiency (AIPI) meeting www.jacionline.org/article/S009... #hvhebron #upiip [Text complet]

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Real-world impact of nirsevimab immunisation and maternal RSV vaccination against respiratory disease on emergency department attendances and admissions: a multinational retrospective analysis Nirsevimab, a long-acting monoclonal antibody against respiratory syncytial virus (RSV), was recently introduced in Catalonia (Spain, 2023–2024 season…

Real-world impact of nirsevimab immunisation and maternal RSV vaccination against respiratory disease on emergency department attendances and admissions: a multinational retrospective analysis www.sciencedirect.com/science/arti... #hvhebron #upiip [Text complet]

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Eurosurveillance | Emergence of Neisseria meningitidis ST-3587 harbouring bla ROB-1 and exhibiting dual resistance to penicillin and ciprofloxacin, Spain, 2024 BACKGROUND Dual penicillin- and ciprofloxacin-resistant Neisseria meningitidis causing invasive meningococcal disease (IMD) have recently emerged in association with sequence type (ST) 3587, harbouring ROB-1 β-lactamase (bla ROB-1) and a mutated DNA gyrase (gyrA). These strains pose a threat to current antimicrobial treatment and prophylaxis. AIM We aimed to characterise the first dual-resistant N. meningitidis ST-3587 isolates harbouring bla ROB-1 and a mutated gyrA identified in Spain. METHODS Three N. meningitidis isolates encoding bla ROB-1 were identified in 2024. They were characterised by whole genome sequencing to determine capsular genogroups, ST and genetic antimicrobial resistance markers. Dated phylogenetic analysis was performed alongside global ST-3587 strains. RESULTS The three bla ROB-1-encoding isolates belonged to ST-3587, genogroup Y, harboured a T91I mutation in gyrA and showed resistance to penicillin and ciprofloxacin. These isolates were obtained from urethral, oropharyngeal and blood samples, each from a different patient. According to the dated phylogenetic analysis of ST-3587 and the presence of bla ROB-1, two clades were defined: clade I and clade II. Within clade II, subclade II.I was identified, comprising isolates which, in addition to bla ROB-1, carried the T91I mutation in gyrA. This subclade included the three Spanish isolates, which exhibited close genetic relatedness. CONCLUSION This study documents the emergence of N. meningitidis ST-3587 with dual resistance in Europe, including a documented urogenital infection by this lineage. Continued surveillance of antimicrobial resistance in N. meningitidis, including non-invasive cases, is crucial for timely public health responses and effective IMD prevention strategies.

Emergence of Neisseria meningitidis ST-3587 harbouring bla ROB-1 and exhibiting dual resistance to penicillin and ciprofloxacin, Spain, 2024 www.eurosurveillance.org/content/10.2... #hvhebron #micro #malin #upiip [Text complet]

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Natural history of clinical manifestations in activated phosphoinositide 3-kinase δ syndrome (APDS): Time-to-event analyses using the European Society for Immunodeficiencies-APDS registry Activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS) is an ultra-rare, progressive disease characterised by immunodeficiency, immune dysr…

Natural history of clinical manifestations in activated phosphoinositide 3-kinase δ syndrome www.sciencedirect.com/science/arti... #hvhebron #upiip [Text complet]

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Using dried blood spots to estimate Toxoplasma gondii seroprevalence in pregnant women in Catalonia, Spain, and to serologically diagnose congenital toxoplasmosis Author summary Toxoplasmosis is a parasitic infection that can cause serious complications during pregnancy if transmitted to the fetus. Although its epidemiological situation in Spain is not well est...

Using dried blood spots to estimate Toxoplasma gondii seroprevalence in pregnant women in Catalonia, Spain, and to serologically diagnose congenital toxoplasmosis journals.plos.org/plosntds/art... #hvhebron #upiip [Text complet]

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Frontiers | Building alliances for early detection of immunodeficiencies: from primary care to hematology Inborn errors of immunity (IEI), also known as primary immunodeficiencies, are a heterogeneous group of rare disorders characterized by increased susceptibil...

Building alliances for early detection of immunodeficiencies: from primary care to hematology www.frontiersin.org/journals/imm... #hvhebron #imm #upiip [Text complet]

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Frontiers | Diagnostic performance of chest radiography for pediatric tuberculosis across high- and low-burden settings BackgroundChest radiography (CXR) is the most widely used imaging tool in pediatric tuberculosis (TB) diagnostic pathways, and remains central in current WHO...

Diagnostic performance of chest radiography for pediatric tuberculosis across high- and low-burden settings www.frontiersin.org/journals/ped... #hvhebron #upiip [Text complet]

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Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement - npj Genomic Medicine npj Genomic Medicine - Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement

Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement www.nature.com/articles/s41... #hvhebron #imm #gen #upiip [Text complet]

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OAS1 and OAS3 genetic variants enhance inflammatory responses to SARS-CoV-2 Recessive deficiency in 2′,5′-oligoadenylate synthetase (OAS) or RNase L can cause systemic inflammation in children with SARS-CoV-2 infection, but it…

OAS1 and OAS3 genetic variants enhance inflammatory responses to SARS-CoV-2 www.sciencedirect.com/science/arti... #hvhebron #upiip #imm [Text complet]

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The value of primary care networks for molecular surveillance of paediatric respiratory infections - European Journal of Clinical Microbiology & Infectious Diseases Background This study aimed to provide a comprehensive overview of SARS-CoV-2 and other respiratory viruses co-infections and analyse the value of Primary Care Centres (PCCs) as a sentinel network for...

The value of primary care networks for molecular surveillance of paediatric respiratory infections link.springer.com/article/10.1... #hvhebron #upiip #micro [Text complet]

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Bronchiectasis, Low IgG Levels and Lack of Vaccination are Risk Factors for Covid-19 Hospitalization in X-linked Agammaglobulinemia – A Retrospective Multicenter Study - Journal of Clinical Immunology X-linked agammaglobulinemia (XLA) is caused by loss-of-function variants in Bruton’s tyrosine kinase, leading to absence of circulating B lymphocytes and inability to produce antibodies. Despite the f...

#Bronchiectasis, Low IgG Levels and Lack of Vaccination are Risk Factors for Covid-19 Hospitalization in X-linked Agammaglobulinemia – A Retrospective Multicenter Study link.springer.com/article/10.1... #hvhebron #hvhebron #upiip [Text complet]

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Decline in pediatric respiratory syncytial virus hospitalizations following nirsevimab implementation: a multicenter, three-season observational study To describe the demographic characteristics and clinical outcomes of hospitalized children with RSV in Catalonia during the first two seasons after th…

Decline in pediatric respiratory syncytial virus hospitalizations following nirsevimab implementation: a multicenter, three-season observational study www.sciencedirect.com/science/arti... #hvhebron #micro #upiip [Text complet]

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Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging | Journal of Human Immunity | Rockefeller University Press STAT1-GOF disease is characterized by infections and autoimmunity. In this article, overall survival after allogeneic HSCT in an international cohort of 36

Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging rupress.org/jhi/article/... #hvhebron #upiip [Text complet]

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Correction to: Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis link.springer.com/article/10.1... #hvhebron #upiip

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Current perspectives and challenges of using artificial intelligence in immunodeficiencies The rapid growth of artificial intelligence (AI) in health care is promising for screening and early diagnosis in settings that heavily rely on professional expertise, such as rare diseases like inbor...

Current perspectives and challenges of using artificial intelligence in immunodeficiencies www.jacionline.org/article/S009... #hvhebron #upiip [Text complet]

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INFECTIOUS COMPLICATIONS OF Staphylococcus aureus BACTEREMIA: Reconsidering the Need for a Systematic Approach journals.lww.com/pidj/fulltex... #hvhebron #micro #upiip @pidjournal.bsky.social

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Proceedings of the Second Artificial Intelligence in Primary Immunodeficiencies (AIPI) Meeting The use of artificial intelligence (AI) in primary immunodeficiencies (IEI) offers transformative potential in diagnostics and disease management but …

Proceedings of the Second Artificial Intelligence in Primary Immunodeficiencies (AIPI) Meeting www.sciencedirect.com/science/arti... #hvhebron #upiip [Text complet]

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De novo talin-1 variant L353F connects multifaceted clinical symptoms to alterations in talin-1 function Talin-1 is a central integrin adapter protein connecting cytoplasmic domains of integrins to the cytoskeleton. These talin-1-mediated mechanical linkages are crucial for cellular functions such as cel...

De novo talin-1 variant L353F connects multifaceted clinical symptoms to alterations in talin-1 function portlandpress.com/biochemj/art... #hvhebron #upiip #gen [Text complet]

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Antifungal Prescribing in European Pediatric Intensive Care Units: Results of a multinational 3-month weekly point-prevalence survey Summary of the main points This study presents data on antifungal prescribing in critically ill paediatric patients. A wide variation of antifungal use pra

Antifungal Prescribing in European Pediatric Intensive Care Units: Results of a multinational 3-month weekly point-prevalence survey academic.oup.com/jpids/advanc... #hvhebron #upiip

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Exploring Multidimensional Risk Factors Associated with Local Adverse Reactions to Subcutaneous Immunoglobulin Therapy: Insights from a Nationwide Multicenter Study www.mdpi.com/2227-9059/13... #hvhebron #upiip [Text complet]

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Prognostic Factors of Late-onset Hearing Loss in Infants... : The Pediatric Infectious Disease Journal : A retrospective study within the European Registry of Children with cCMV (www.ccmvnet.org) was performed. Included children had cCMV and a normal first audiological assessment by Auditory Brainste...

Prognostic Factors of Late-onset Hearing Loss in Infants With Congenital Cytomegalovirus and Normal Audiologic Assessment at Birth journals.lww.com/pidj/fulltex... #hvhebron #upiip

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Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis - Journal of Clinical Immunology Purpose Patients with (X-linked) agammaglobulinemia (XLA) suffer from severe, recurrent infections potentially leading to life-threatening complications such as sepsis, meningoencephalitis and chronic...

Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis link.springer.com/article/10.1... #hvhebron #upiip [Text complet]

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Both Corticosteroids and Intravenous Immunoglobulin Protect ... : The Pediatric Infectious Disease Journal ated risk factors. Methods: This multicenter, ambispective study included hospitalized patients 0–18 years old with MIS-C between March 2020 and June 2023 from cohorts in Poland, Spain, Catalonia a...

Both Corticosteroids and Intravenous Immunoglobulin Protect From Aneurysms in Children With Multisystem Inflammatory Syndrome (MIS-C): A Multicenter Ambispective Study journals.lww.com/pidj/fulltex... #hvhebron #upiip

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