Julian J. Bosco
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View article: Third dose COVID-19 vaccination elicits immune memory in patients with inborn errors of immunity even in absence of neutralizing antibodies
Third dose COVID-19 vaccination elicits immune memory in patients with inborn errors of immunity even in absence of neutralizing antibodies Open
Background Immunocompromised people, including those with Inborn Errors of Immunity (IEI), are at increased risk of severe disease from viral infections. Therefore, regular booster vaccinations are recommended for SARS-CoV-2 and influenza,…
View article: Novel SYK Variant Causes Enhanced SYK Autophosphorylation and PI3K Activation in an Antibody-Deficient Patient
Novel SYK Variant Causes Enhanced SYK Autophosphorylation and PI3K Activation in an Antibody-Deficient Patient Open
Background Inborn errors of immunity (IEI) affecting B-cell receptor signaling cause predominantly antibody deficiency (PAD) with varying degrees of severity. Recently, four heterozygous variants in SYK were reported to cause hypogammaglob…
View article: Indications and Diagnostic Yield of Paraneoplastic and Autoimmune Encephalitis Antibody Testing: A Retrospective Cohort Study
Indications and Diagnostic Yield of Paraneoplastic and Autoimmune Encephalitis Antibody Testing: A Retrospective Cohort Study Open
Background Autoimmune encephalitis (AE) and paraneoplastic syndromes (PNS) are rare disorders with distinct phenotypes. They are increasingly considered in patients with diverse neurologic symptoms, but the clinical context remains critica…
View article: Novel<i>SYK</i>variant causes enhanced SYK autophosphorylation and PI3K activation in an antibody-deficient patient
Novel<i>SYK</i>variant causes enhanced SYK autophosphorylation and PI3K activation in an antibody-deficient patient Open
Background Inborn errors of immunity (IEI) affecting B-cell receptor signaling cause predominantly antibody deficiency (PAD) with varying degrees of severity. Recently, four heterozygous variants in SYK were reported to cause hypogammaglob…
View article: Dupilumab-associated hypereosinophilia in severe asthma
Dupilumab-associated hypereosinophilia in severe asthma Open
Dupilumab has been associated with adverse reactions including symptomatic hypereosinophilia. This study reports the incidence of dupilumab-related eosinophilia and adverse reactions in severe asthma patients at an Australian tertiary c…
View article: Neutropaenia complications from Ocrelizumab and Rituximab treatment
Neutropaenia complications from Ocrelizumab and Rituximab treatment Open
Ocrelizumab is an anti-CD20 monoclonal antibody (mAb) that has been shown in phase 3 clinical trials to reduce relapses and disease progression in multiple sclerosis (MS) patients. Prior to the approval of ocrelizumab, rituximab, a chimeri…
View article: TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies
TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies Open
View article: Inflammatory complications of CGRP monoclonal antibodies: a case series
Inflammatory complications of CGRP monoclonal antibodies: a case series Open
View article: 076 Inflammatory complications of CGRP monoclonal antibodies
076 Inflammatory complications of CGRP monoclonal antibodies Open
Background CGRP monoclonal antibodies (mAb) are an effective new preventative treatment for episodic and chronic migraine, with a favourable adverse event profile. In addition to its role in mediating migraine attacks, CGRP is widely expre…
View article: Genomics analysis of leukaemia predisposition in X‐linked agammaglobulinaemia
Genomics analysis of leukaemia predisposition in X‐linked agammaglobulinaemia Open
X-linked agammaglobulinemia (XLA) is an inborn error of immunity caused by pathogenic variants in Bruton’s tyrosine kinase (BTK). BTK plays an important role in B-cell differentiation, proliferation and survival, and XLA patients display a…
View article: Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency
Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency Open
View article: Influenza‐specific IgG1<sup>+</sup> memory B‐cell numbers increase upon booster vaccination in healthy adults but not in patients with predominantly antibody deficiency
Influenza‐specific IgG1<sup>+</sup> memory B‐cell numbers increase upon booster vaccination in healthy adults but not in patients with predominantly antibody deficiency Open
Background Annual influenza vaccination is recommended to all individuals over 6 months of age, including predominantly antibody deficiency (PAD) patients. Vaccination responses are typically evaluated by serology, and because PAD patients…
View article: Predominantly Antibody-Deficient Patients With Non-infectious Complications Have Reduced Naive B, Treg, Th17, and Tfh17 Cells
Predominantly Antibody-Deficient Patients With Non-infectious Complications Have Reduced Naive B, Treg, Th17, and Tfh17 Cells Open
Background: Patients with predominantly antibody deficiency (PAD) suffer from severe and recurrent infections that require lifelong immunoglobulin replacement and prophylactic antibiotic treatment. Disease incidence is estimated to …
View article: Quantification of T-Cell and B-Cell Replication History in Aging, Immunodeficiency, and Newborn Screening
Quantification of T-Cell and B-Cell Replication History in Aging, Immunodeficiency, and Newborn Screening Open
Quantification of T-cell receptor excision circles (TRECs) has impacted on human T-cell research, but interpretations on T-cell replication have been limited due to the lack of a genomic coding joint. We here overcome this limitation with …
View article: Functional Antibody Responses Following Allogeneic Stem Cell Transplantation for TP53 Mutant pre-B-ALL in a Patient With X-Linked Agammaglobulinemia
Functional Antibody Responses Following Allogeneic Stem Cell Transplantation for TP53 Mutant pre-B-ALL in a Patient With X-Linked Agammaglobulinemia Open
Patients with X-linked agammaglobulinemia (XLA) have failure of B-cell development with lack of immunoglobulin (Ig) production. While immunoglobulin replacement therapy (IgRT) is beneficial, XLA patients remain at risk for infections, stru…
View article: Impaired STAT3-Dependent Upregulation of IL2Rα in B Cells of a Patient With a STAT1 Gain-of-Function Mutation
Impaired STAT3-Dependent Upregulation of IL2Rα in B Cells of a Patient With a STAT1 Gain-of-Function Mutation Open
Heterozygous STAT1 gain-of-function (GOF) mutations form the most common genetic cause of chronic mucocutaneous candidiasis (CMC). In such patients, increased STAT1 function leads to impaired STAT3-dependent activation of IL-17A and…
View article: Issue Information
Issue Information Open
Vaccine strain varicella zoster virus transmitted within a family from a child with shingles results in varicella meningitis in an immunocompetent adult
View article: Delayed Diagnosis and Complications of Predominantly Antibody Deficiencies in a Cohort of Australian Adults
Delayed Diagnosis and Complications of Predominantly Antibody Deficiencies in a Cohort of Australian Adults Open
Our data are largely consistent with the experience of other centers internationally, with clear areas for improvement, including reducing diagnostic delay for patients with PADs. It is likely that these challenges will be in part overcome…
View article: Mast Cell
Mast Cell Open
View article: CPID 6: ACUTE PRE‐B LYMPHOBLASTIC LEUKAEMIA IN A PATIENT WITH X‐LINKED AGAMMAGLOBULINEMIA
CPID 6: ACUTE PRE‐B LYMPHOBLASTIC LEUKAEMIA IN A PATIENT WITH X‐LINKED AGAMMAGLOBULINEMIA Open
A case report of a 24-year-old male with x-linked agammaglobulinaemia (XLA) complicated by pre-B cell acute leukaemia and a literature review of malignancies in the context of XLA. We present a case report of a young man with XLA diagnosed…