Eyal Grunebaum
YOU?
Author Swipe
View article: Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening
Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening Open
Standard newborn screening using T cell receptor excision circles (TRECs) failed to detect delayed-onset ADA deficiency in two cases. Retrospective mass spectrometry (MS/MS) analysis showed diagnostic deoxyadenosine elevation at birth. We …
View article: Peanut Oral Immunotherapy Using 30 and 300 mg Maintenance Doses
Peanut Oral Immunotherapy Using 30 and 300 mg Maintenance Doses Open
A 30 mg maintenance dose for P-OIT significantly increases the threshold over strict avoidance, clinically similarly to 300 mg, and may allow for a simplified and safer immunotherapy regimen and fewer treatment dropouts.
View article: Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging
Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging Open
Germline gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) are associated with infections, including chronic mucocutaneous candidiasis and autoimmunity. Morbidity is high, and disease manifestat…
View article: Post-Transplant Chronic Granulomatous Disease Patient Follow-Up: A PIDTC Survey
Post-Transplant Chronic Granulomatous Disease Patient Follow-Up: A PIDTC Survey Open
Background Chronic granulomatous disease (CGD) is an inborn error of immunity caused by defects in NADPH oxidase, which causes phagocyte dysfunction. CGD is characterized by recurrent infections and autoimmunity. Allogeneic hematopoietic s…
View article: Pediatric herpes zoster: should I be concerned for immunodeficiency? A review
Pediatric herpes zoster: should I be concerned for immunodeficiency? A review Open
Herpes zoster (HZ), caused by reactivation of varicella-zoster virus (VZV), is an uncommon cause of rash in pediatrics, which can lead to concerns of an underlying immunodeficiency. We reviewed studies on HZ in pediatric patients. The diag…
View article: Predicting Cow’s Milk Challenge Outcomes in Children: Multivariate Analysis of Clinical Predictors
Predicting Cow’s Milk Challenge Outcomes in Children: Multivariate Analysis of Clinical Predictors Open
Introduction: Oral food challenges are the gold standard for diagnosis and reactivity thresholds but are resource intensive and high risk for reactions. Limited data on factors associated with increased risk of positive oral food challenge…
View article: Persistence and decay of neutralizing antibody responses elicited by SARS-CoV-2 infection and hybrid immunity in a Canadian cohort
Persistence and decay of neutralizing antibody responses elicited by SARS-CoV-2 infection and hybrid immunity in a Canadian cohort Open
A major challenge with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of coronavirus disease 2019 (COVID-19), has been assessing the intensity, dynamics, and determinants of the antibody responses after i…
View article: Characterizing CD38 expression in terminally differentiated B cells using variable lymphocyte receptor B tetramers
Characterizing CD38 expression in terminally differentiated B cells using variable lymphocyte receptor B tetramers Open
Introduction CD38 is an ectoenzyme receptor found on hematopoietic cells and its expression is used in the flow cytometric analysis of sub-populations of circulating B cells among peripheral blood mononuclear cells (PBMC) to aid in diagnos…
View article: Aberrant early hematopoietic progenitor formation marks the onset of hematopoietic defects in Shwachman–Diamond syndrome
Aberrant early hematopoietic progenitor formation marks the onset of hematopoietic defects in Shwachman–Diamond syndrome Open
Shwachman–Diamond syndrome (SDS) is an inherited bone marrow failure disorder that often presents at infancy. Progress has been made in revealing causal mutated genes ( SBDS and others), ribosome defects, and hematopoietic aberrations in S…
View article: Inborn errors of immunity in Canadian First Nations and Nunavut Inuit Children: the tip of the iceberg
Inborn errors of immunity in Canadian First Nations and Nunavut Inuit Children: the tip of the iceberg Open
Objectives Inborn errors of immunity (IEI) are a heterogeneous group of genetic diseases that impact normal immune development and function. Individual IEI are rare, but collectively, can represent an important health burden. Little is kno…
View article: Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment
Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment Open
Spinal muscular atrophy (SMA) is a neuromuscular genetic disorder caused by the loss of lower motor neurons leading to progressive muscle weakness and atrophy. With the rise of novel therapies and early diagnosis on newborn screening (NBS)…
View article: Genotype, oxidase status, and preceding infection or autoinflammation do not affect allogeneic HCT outcomes for CGD
Genotype, oxidase status, and preceding infection or autoinflammation do not affect allogeneic HCT outcomes for CGD Open
Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by life-threatening infections and inflammatory conditions. Hematopoietic cell transplantation (HCT) is the definitive treatment for CGD, but questions remain …
View article: Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome Open
STAT3 GOF patients present with a wide array of immune-mediated disease including lymphoproliferation, autoimmune cytopenias, and multisystem autoimmunity. Patient care tends to be siloed, without a clear treatment strategy. Thus, early id…
View article: Skin prick test in milk allergic patients undergoing oral immunotherapy: Does the milk form used for skin tests matter?
Skin prick test in milk allergic patients undergoing oral immunotherapy: Does the milk form used for skin tests matter? Open
SPT is the most commonly used confirmatory test for an IgE-mediated milk allergy. However, food SPTs are not standardized. We aimed to assess the accuracy of SPTs with extract, diluted, and undiluted milk to detect desensitization in child…
View article: Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome
Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome Open
The eukaryotic CDC45/MCM2-7/GINS (CMG) helicase unwinds the DNA double helix during DNA replication. The GINS subcomplex is required for helicase activity and is, therefore, essential for DNA replication and cell viability. Here, we report…
View article: Homozygous duplication identified by whole genome sequencing causes LRBA deficiency
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency Open
In more than one-third of primary immunodeficiency (PID) patients, extensive genetic analysis including whole-exome sequencing (WES) fails to identify the genetic defect. Whole-genome sequencing (WGS) is able to detect variants missed by o…
View article: The Use of Induced Pluripotent Stem Cells to Study the Effects of Adenosine Deaminase Deficiency on Human Neutrophil Development
The Use of Induced Pluripotent Stem Cells to Study the Effects of Adenosine Deaminase Deficiency on Human Neutrophil Development Open
Inherited defects that abrogate the function of the adenosine deaminase (ADA) enzyme and consequently lead to the accumulation of toxic purine metabolites cause profound lymphopenia and severe combined immune deficiency. Additionally, neut…