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View article: Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2
Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2 Open
The clinical outcome of SARS-CoV-2 infection spans from asymptomatic viral elimination to lethal COVID-19 pneumonia, which is due to type I interferon (IFN) deficiency in at least 15-20% of cases. We report two unrelated male patients with…
View article: Case Report: Dual molecular diagnosis of gain-of-function STAT1 mutation and regulatory STAT3 variant in a patient with a hyper-IgE-like phenotype
Case Report: Dual molecular diagnosis of gain-of-function STAT1 mutation and regulatory STAT3 variant in a patient with a hyper-IgE-like phenotype Open
Background The transcription factors signal transducer and activator of transcription 1 and 3 (STAT1 and STAT3) play essential roles in immune and non-immune cell function. The clinical characterization of patients carrying germline gain o…
View article: A novel homozygous frameshift mutation likely causing nonsense-mediated mRNA decay in an Algerian kindred with CD19 complex deficiency
A novel homozygous frameshift mutation likely causing nonsense-mediated mRNA decay in an Algerian kindred with CD19 complex deficiency Open
Background CD19 is an essential component of a membrane protein complex on B cells, which also includes complement receptor 2 (CD21), CD81, and CD225. It amplifies B cell receptor (BCR) signaling by recruiting regulatory molecules and faci…
View article: A Novel Homozygous CRACR2A Variant Underlying CRACR2A-Associated Immunodeficiency in a Tunisian Patient
A Novel Homozygous CRACR2A Variant Underlying CRACR2A-Associated Immunodeficiency in a Tunisian Patient Open
The calcium release-activated calcium modulator-2A (CRACR2A) protein plays a critical role in regulating store-operated calcium entry (SOCE) through CRAC channels, a process essential for numerous cellular functions, particularly T cell ac…
View article: Achieving and sustaining measles elimination in Hong Kong, from 1967 to 2024: lessons to be learnt
Achieving and sustaining measles elimination in Hong Kong, from 1967 to 2024: lessons to be learnt Open
Following the development and roll-out of the measles vaccine in 1954, measles incidence dropped to low levels in areas where measles vaccines with high coverage were introduced. The Measles and Rubella Strategic Framework 2021–2030 develo…
View article: Population-based study on hospital admissions for pediatric status asthmaticus: from before to after the COVID-19 pandemic
Population-based study on hospital admissions for pediatric status asthmaticus: from before to after the COVID-19 pandemic Open
Objectives The increase in respiratory infections post-COVID-19 pandemic, attributed to relaxed masking and social distancing, has raised concerns about a new pattern of severe asthma exacerbations in children. We compare admission rates, …
View article: Healthcare resources for inborn errors of immunity in the Asia-Pacific region
Healthcare resources for inborn errors of immunity in the Asia-Pacific region Open
This questionnaire-based study provides insights into the current healthcare infrastructure used to diagnose and manage inborn errors of immunity across countries and regions involved in the Asia-Pacific Society for Immunodeficiencies.
View article: Perioperative anaphylaxis in children and first successful cisatracurium desensitization
Perioperative anaphylaxis in children and first successful cisatracurium desensitization Open
Background Perioperative anaphylaxis (PA) is a rare life‐threatening complication of anesthesia, with few descriptions of its diagnosis and outcomes in the pediatric population. Many agents can be potential culprits, and drug provocation t…
View article: Humoral and cellular immunogenicity of a fourth dose BNT162b2 in children with chronic kidney diseases
Humoral and cellular immunogenicity of a fourth dose BNT162b2 in children with chronic kidney diseases Open
Background Children with chronic kidney disease (CKD) are at risk of severe complications after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and are recommended to receive vaccine boosters. Although coronavirus di…
View article: Case report: A novel de novo germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Bacillus Calmette–Guerin osteomyelitis
Case report: A novel de novo germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Bacillus Calmette–Guerin osteomyelitis Open
Signal transducer and activator of transcription 1 (STAT1) gene mutations have broad clinical phenotypes, classified by the inheritance pattern and functional state. Individuals with autosomal dominant STAT1 deficiency are more susceptible…
View article: Outcomes of pediatric patients with suspected allergies to COVID-19 vaccines
Outcomes of pediatric patients with suspected allergies to COVID-19 vaccines Open
Children with a history of urticaria or angioedema related or unrelated to prior COVID-19 vaccination were at higher risk of a COVID-19-related AEFI on revaccination, although most were able to complete the vaccination series under the man…
View article: A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity Open
Autosomal recessive deficiency of the IFNAR1 or IFNAR2 chain of the human type I IFN receptor abolishes cellular responses to IFN-α, -β, and -ω, underlies severe viral diseases, and is globally very rare, except for IFNAR1 and IFNAR2 defic…
View article: Development and validation of the Post-COVID Symptom Scale for Children/Youth (PCSS-C/Y)
Development and validation of the Post-COVID Symptom Scale for Children/Youth (PCSS-C/Y) Open
This study aims to develop and validate the Post-COVID Symptom Scale for Children/Youth (PCSS-C/Y), which is a comprehensive tool for measuring the symptom burden of post-COVID-19 conditions—persistent symptoms after SARS-CoV-2 infection, …
View article: SDrecall: A Scalable Approach for Sensitive Variant Detection in Segmental Duplications
SDrecall: A Scalable Approach for Sensitive Variant Detection in Segmental Duplications Open
Next-generation sequencing is a formidable tool for molecular diagnosis. However, variant calling in segmental duplication regions remains a challenge for short-read sequencing, and no effective tools are available for these regions. We in…
View article: Heterozygous <i>BTNL8</i> variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
Heterozygous <i>BTNL8</i> variants in individuals with multisystem inflammatory syndrome in children (MIS-C) Open
Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reporte…
View article: Medium-term immunogenicity of three doses of BNT162b2 and CoronaVac in Hong Kong neuromuscular disease patients
Medium-term immunogenicity of three doses of BNT162b2 and CoronaVac in Hong Kong neuromuscular disease patients Open
The durability of the immunogenicity elicited by three doses of mRNA-based BNT162b2 and whole-virus inactivated CoronaVac in patients with neuromuscular diseases, particularly those on immunosuppressive drugs and variants of concern, has n…
View article: Somatic reversion in Wiskott‐Aldrich syndrome: Case reports and mechanistic insights
Somatic reversion in Wiskott‐Aldrich syndrome: Case reports and mechanistic insights Open
This report describes two brothers from India and a Chinese patient with somatic reversion of an inherited deleterious mutation in the WAS gene. Both the Indian siblings had inherited a single nucleotide deletion causing a frameshift mutat…
View article: NODULAR PRETIBIAL MYXEDEMA FOLLOWING TREATMENT OF GRAVES’ DISEASE
NODULAR PRETIBIAL MYXEDEMA FOLLOWING TREATMENT OF GRAVES’ DISEASE Open
INTRODUCTION/BACKGROUNDPretibial myxoedema (PM) is an uncommon manifestation of Graves' disease (GD). Typically, thyroid dermopathy may present as non-pitting oedema with indurated skin giving a ‘peau d’orange’ appearance. Less commonly, p…
View article: A multimorphic variant in ThPOK causes a novel human disease characterized by T cell abnormalities, immunodysregulation, allergy, and fibrosis
A multimorphic variant in ThPOK causes a novel human disease characterized by T cell abnormalities, immunodysregulation, allergy, and fibrosis Open
ThPOK is best known as a regulator of CD4+ T cell lineage commitment, although it was initially cloned as a suppressor of collagen expression in the skin. The role of ThPOK has not been formally established in humans since individuals with…
View article: Unraveling transcriptomic signatures and dysregulated pathways in systemic lupus erythematosus across disease states
Unraveling transcriptomic signatures and dysregulated pathways in systemic lupus erythematosus across disease states Open
Objectives This study aims to elucidate the transcriptomic signatures and dysregulated pathways in patients with Systemic Lupus Erythematosus (SLE), with a particular focus on those persisting during disease remission. Methods We conducted…
View article: Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection Open
Human genetic studies of critical COVID-19 pneumonia have revealed the essential role of type I interferon-dependent innate immunity to SARS-CoV-2 infection. Conversely, an association between the HLA-B∗15:01 allele and asymptomatic SARS-C…
View article: Effectiveness of inactivated COVID-19 vaccine CoronaVac in children aged less than 3 years old during Omicron wave in Hong Kong
Effectiveness of inactivated COVID-19 vaccine CoronaVac in children aged less than 3 years old during Omicron wave in Hong Kong Open
The COVID-19 pandemic has affected people of all ages worldwide. However, there is still no information on the vaccine effectiveness (VE) of inactivated COVID-19 vaccines in children aged less than 3 years old. This study highlighted that …
View article: Superior antibody and membrane protein-specific T-cell responses to CoronaVac by intradermal versus intramuscular routes in adolescents
Superior antibody and membrane protein-specific T-cell responses to CoronaVac by intradermal versus intramuscular routes in adolescents Open
Background Optimising the immunogenicity of COVID-19 vaccines to improve their protection against disease is necessary. Fractional dosing by intradermal (ID) administration has been shown to be equally immunogenic as intramuscular (IM) adm…
View article: Editorial: Emerging talents in primary immunodeficiencies: 2022
Editorial: Emerging talents in primary immunodeficiencies: 2022 Open
EDITORIAL article Front. Immunol., 23 November 2023Sec. Primary Immunodeficiencies Volume 14 - 2023 | https://doi.org/10.3389/fimmu.2023.1267778