Sharon Choo
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View article: <i>FOXN1</i> ’S Phenotype? FOX-Trotting Around Newborn Screening
<i>FOXN1</i> ’S Phenotype? FOX-Trotting Around Newborn Screening Open
Introduction FOXN1 plays a crucial role in the development of thymic epithelial cells. Homozygous FOXN1 deficiency leads to T−B+NK+ severe combined immunodeficiency (SCID), whereas FOXN1 haploinsufficiency is linked to T cell lymphopenia a…
View article: Streptococcal Serology Reference Intervals in an Australian Pediatric Cohort
Streptococcal Serology Reference Intervals in an Australian Pediatric Cohort Open
Background Diagnostic criteria for acute rheumatic fever and post-streptococcal glomerulonephritis, the 2 major autoimmune complications of Streptococcus pyogenes infection, include serological evidence of preceding infection. The S. pyoge…
View article: Continuous reference intervals for total serum immunoglobulin E in neonates and children
Continuous reference intervals for total serum immunoglobulin E in neonates and children Open
Immunoglobulin E (IgE) is a group of antibodies involved with allergic sensitisation. Levels of total IgE change with age and tend to be higher in individuals with allergic diseases than in those without. To improve the clinical utility of…
View article: Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants Open
Genetic screening for severe congenital immunohematological diseases offers potential for early intervention, particularly through preemptive allogeneic hematopoietic stem cell transplantation (HSCT). However, the clinical value of such sc…
View article: No‐Biopsy Diagnosis of Coeliac Disease in Children Without Anti‐Endomysial <scp>IgA</scp> Antibody Testing: Combining Anti‐Tissue Transglutaminase <scp>IgA</scp> and Anti‐Deamidated Gliadin <scp>IgG</scp> Antibodies
No‐Biopsy Diagnosis of Coeliac Disease in Children Without Anti‐Endomysial <span>IgA</span> Antibody Testing: Combining Anti‐Tissue Transglutaminase <span>IgA</span> and Anti‐Deamidated Gliadin <span>IgG</span> Antibodies Open
Aim To determine the utility of anti‐tissue transglutaminase IgA antibodies (tTG‐IgA) and anti‐deaminated gliadin peptide IgG antibodies (DGP‐IgG) in detecting coeliac disease (CD) and whether DGP‐IgG can replace anti‐endomysial IgA antibo…
View article: A case of T‐cell‐Epstein–Barr virus‐haemophagocytic lymphohistiocytosis and sustained remission following ruxolitinib therapy
A case of T‐cell‐Epstein–Barr virus‐haemophagocytic lymphohistiocytosis and sustained remission following ruxolitinib therapy Open
Objectives Epstein–Barr virus (EBV) is a common cause of secondary haemophagocytic lymphohistiocytosis (HLH). While B cells are reservoirs for EBV, infection within T cells and NK cells in this disease can be difficult to treat. Methods A …
View article: P65: THE VIRTUAL IMMUNOLOGY CLINIC FOR GENERAL PRACTICE (VIC‐GP) – USING AUTOMATION TO ENABLE A NOVEL AND EFFICIENT WORKFLOW THAT DELIVERS TIMELY ACCESS TO SPECIALIST CARE WHILE UPSKILLING GENERAL PRACTITIONERS
P65: THE VIRTUAL IMMUNOLOGY CLINIC FOR GENERAL PRACTICE (VIC‐GP) – USING AUTOMATION TO ENABLE A NOVEL AND EFFICIENT WORKFLOW THAT DELIVERS TIMELY ACCESS TO SPECIALIST CARE WHILE UPSKILLING GENERAL PRACTITIONERS Open
score under 7 and 86% a CDLQI score of 4 or less.Two patients have discontinued use, due to insufficient engagement with follow up requirements.There have been no significant side effects noted.7 of 24 patients have had 2 follow up assessm…
View article: P63: NOT FOR PUBLICATION
P63: NOT FOR PUBLICATION Open
score under 7 and 86% a CDLQI score of 4 or less.Two patients have discontinued use, due to insufficient engagement with follow up requirements.There have been no significant side effects noted.7 of 24 patients have had 2 follow up assessm…
View article: P61: NOT FOR PUBLICATION
P61: NOT FOR PUBLICATION Open
score under 7 and 86% a CDLQI score of 4 or less.Two patients have discontinued use, due to insufficient engagement with follow up requirements.There have been no significant side effects noted.7 of 24 patients have had 2 follow up assessm…
View article: Impact of antibiotic allergy labels on patient outcomes in a tertiary paediatric hospital
Impact of antibiotic allergy labels on patient outcomes in a tertiary paediatric hospital Open
Aims Antibiotic allergies are reported in 5–15% of children. This study aimed to evaluate the impact of common β‐lactam antibiotic allergy labels (AALs) on hospital treatment, focusing on length of stay and appropriateness of antibiotic pr…
View article: Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency Open
Biallelic mutations in the genes encoding CD27 or its ligand CD70 underlie inborn errors of immunity (IEIs) characterized predominantly by Epstein-Barr virus (EBV)-associated immune dysregulation, such as chronic viremia, severe infectious…
View article: Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production
Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production Open
Antibody-mediated autoimmune diseases are a major health burden. However, our understanding of how self-reactive B cells escape self-tolerance checkpoints to secrete pathogenic autoantibodies remains incomplete. Here, we demonstrate that p…
View article: Non–β-Lactam Antibiotic Hypersensitivity Reactions
Non–β-Lactam Antibiotic Hypersensitivity Reactions Open
OBJECTIVES: Antibiotics are among the most common prescriptions in children, and non–β-lactam antibiotics (NBLAs) account for almost half of those prescribed in Australian pediatric hospitals. Despite this, data on NBLA hypersensitivity in…
View article: Issue Information
Issue Information Open
This review explains the complexity and shortcomings of serological and molecular human leukocyte antigens (HLA) typing, which are critical in the assessment of immunological risks for potential kidney transplant candidates.Consequently, t…
View article: Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients
Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients Open
Bi-allelic inactivating mutations in DOCK8 cause a combined immunodeficiency characterised by severe pathogen infections, eczema, allergies, malignancy and impaired humoral responses. These clinical features result from functional defects …
View article: Germline-activating mutations in <i>PIK3CD</i> compromise B cell development and function
Germline-activating mutations in <i>PIK3CD</i> compromise B cell development and function Open
Gain-of-function (GOF) mutations in PIK3CD, encoding the p110δ subunit of phosphatidylinositide 3-kinase (PI3K), cause a primary immunodeficiency. Affected individuals display impaired humoral immune responses following infection or immuni…
View article: Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T‐cell receptor excision circle‐based method in Victorian dried blood spots
Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T‐cell receptor excision circle‐based method in Victorian dried blood spots Open
Aim Severe combined immunodeficiency ( SCID ) is the most severe form of primary immunodeficiency and is fatal in infancy if untreated. As early diagnosis is associated with improved outcomes, SCID is an ideal condition to consider for inc…
View article: Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH
Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH Open
Key Points NK cell function testing is less sensitive and no more specific for discriminating genetic HLH compared to perforin and CD107a expression. Perforin and CD107a testing could augment NK-cell cytotoxicity testing for use in HLH dia…
View article: Characterization of T and B cell repertoire diversity in patients with RAG deficiency
Characterization of T and B cell repertoire diversity in patients with RAG deficiency Open
Differences in B and T cell repertoires in patients with RAG deficiency associate with clinical severity.
View article: Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations
Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations Open
To the editor:
Mutations in PRF1 , which encodes perforin, were discovered to cause familial hemophagocytic lymphohistiocytosis (FHL) in 1999 and account for 20% to 50% of all FHL cases.[1][1][⇓][2][⇓][3][⇓][4][⇓][5]-[6][6] Flow cytometri…