Andrew McLean-Tooke's research while affiliated with Sir Charles Gairdner Hospital and other places

Publications (67)

Article
With the advent of next-generation sequencing (NGS), monogenic forms of common variable immunodeficiency (CVID) have been increasingly described. Our study aimed to identify disease-causing variants in a Western Australian CVID cohort using a novel targeted NGS panel. Targeted amplicon NGS was performed on 22 unrelated subjects who met the formal E...
Article
Pemphigus encompasses of a group of rare, and often severe, intraepidermal bullous dermatoses that are mediated by autoantibodies that act against adhesion proteins of the desmosome. The current international consensus is that the use of intravenous CD20 inhibitors should be first‐line in the management of moderate‐to‐severe cases of pemphigus, how...
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Current understanding of cross-reactivity in severe cutaneous adverse reactions to beta-lactam antibiotics is limited, thereby making recommendations for future prescribing difficult. The underlying immunopathogenesis of these reactions is not completely understood but involves interactions between small molecule drugs, T cells and HLA molecules. H...
Article
Background: Calculated globulin fraction is derived from the liver function tests by subtracting albumin from the total protein. Since immunoglobulins comprise the largest component of the serum globulin concentration, increased or decreased calculated globulins and may identify patients with hypogammaglobulinaemia or hypergammaglobulinaemia respec...
Article
This consensus document outlines the recommendations from the Australasian Society of Clinical Immunology and Allergy Transplantation and Primary Immunodeficiency group for the diagnosis and management of patients with severe combined immunodeficiency. It also provides a proposed framework for the early investigation, management and supportive care...
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Background: Granulomatous polyangiitis (GPA) is a rare multisystem autoimmune disease of unknown aetiology that is pathologically characterised by necrotising vasculitis, tissue necrosis and granulomatous inflammation, typically in the presence of anti-neutrophil cytoplasmic antibodies (ANCA). However infectious diseases may induce high titre ANCA...
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Coeliac disease (CD) diagnosis is based on clinical assessment, detection of specific autoantibodies and histological examination of small intestinal biopsies. The European Society of Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) guidelines have recently been updated and recommend CD may be diagnosed without a biopsy or HLA typing...
Article
Coeliac disease (CD) diagnosis is based on clinical assessment, detection of specific autoantibodies and histological examination of small intestinal biopsies. The European Society of Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) guidelines have recently been updated and recommend CD may be diagnosed without a biopsy or HLA typing...
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Background Systemic Lupus Erythematosus (SLE) is a chronic multiorgan disease with an unpredictable disease course, which requires monitoring for disease activity, treatment efficacy and comorbidity. Data on the healthcare utilization and cost of SLE, especially from Australia are scarce. Objectives To determine the healthcare utilisation and esti...
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Objective: Globally, grass pollens (GP) are major aeroallergen triggers of allergic rhinitis (AR) and asthma. However, patterns of allergic sensitisation to pollen of temperate (Pooideae: Lolium perenne) and subtropical (Chloridoideae: Cynodon dactylon and Panicoideae: Paspalum notatum) subfamilies in diverse climates remain unclear. This study ai...
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Variants in MAGT1 have been identified as the cause of an immune deficiency termed X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection and neoplasia (XMEN) disease. Here, we describe 2 cases of XMEN disease due to novel mutations in MAGT1, one of whom presented with classical features of XMEN disease and another who...
Article
A 41-year-old male patient presented with isolated right lower limb swelling. An ultrasound scan showed right external iliac and femoral vein deep vein thrombosis due to extrinsic compression by an aneurysm of the right common iliac artery. Investigations including imaging and a tissue biopsy of right and left femoral arteries confirmed a rare clin...
Article
Muscular polyarteritis nodosa where disease is isolated to skeletal muscle is a rare and often poorly recognised clinical entity. Patients typically present with fever and severe muscle pain limiting ability to ambulate without rise in creatine kinase. Often there is a significant delay between presentation and diagnosis, which requires histologica...
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Interstitial lung disease (ILD) encompasses a large group of pulmonary conditions sharing common clinical, radiological and histopathological features as a consequence of fibrosis of the lung interstitium. The majority of ILDs are idiopathic in nature with possible genetic predisposition, but is also well recognised as a complication of connective...
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Background: The extra-intestinal manifestation of tracheobronchitis is a rare complication of ulcerative colitis (UC). Here, we present a case of UC-related tracheobronchitis wherein the positive clinical effects of infliximab are demonstrated. Case presentation: We report the case of a 39-year old woman who presented with a chronic productive c...
Article
We report two cases of cryptococcosis, associated with anti‐granulocyte‐macrophage colony‐stimulating factor antibodies. We review this recently identified acquired form of autoimmune immune deficiency and discuss the potential applications of granulocyte‐macrophage colony‐stimulating factor antibody testing by enzyme‐linked immunosorbent assay.
Article
Aim The primary aim of the current study was to determine if it is cost effective to use HLA typing as a first line screening test for celiac disease (CD) in children with type 1 diabetes (T1D), as recommended by the European Society of Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN). The second aim was to investigate whether anti‐ti...
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Objective: To evaluate the prevalence of anti-AQP4 antibody in serum and CSF samples from patients being investigated for possible neuromyelitis optica spectrum disorder (NMOSD) referred to the PathWest State reference laboratory using a sensitive cell-based assay (CBA). Background: NMOSD is an inflammatory CNS disease distinct from MS, which is...
Article
Antibodies against glutamic acid decarboxylase (GAD) are reported in association with numerous neurological conditions including temporal lobe epilepsy and limbic encephalitis. We report a case of Anti-GAD-Antibody associated encephalitis presenting with epilepsia partialis continua (EPC) progressing to a fulminant encephalopathy preferentially aff...
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Plasma cell mucositis (PCM) is a rare non-neoplastic plasma cell proliferative disorder of the mucous membranes, which typically presents as soft tissue lesions involving oral, upper airway or genital mucosa. Laryngeal involvement resulting in stridor has been reported in four other cases previously, with three requiring tracheostomy. We present a...
Article
Interstitial lung disease (ILD) is a significant complication of Sjögren syndrome (SS) associated with increased morbidity and mortality. The mainstay of treatment remains corticosteroid administration, with or without additional immunosuppressive therapies. Preliminary studies in SS have shown benefit in glandular and serologic parameters followin...
Article
Advances in reproductive medicine have significantly increased the success of fertility treatments. Nevertheless, some women experience recurrent implantation failure (RIF) after in-vitro fertilization (IVF) or recurrent pregnancy loss (RPL). Imbalances in the immune system and failure to achieve immune tolerance to the foetus have been implicated...
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Background: Infection is the leading cause of death in rheumatoid arthritis (RA). Corticosteroid (CS) use is a known and important risk factor for serious infections (SIs). Mannose binding lectin (MBL) is a genetically determined component of the innate immune system implicated in neonatal infections. Objective: Our aim was to determine whether...
Article
Hyperplastic gingivitis is a rare manifestation of granulomatosis with polyangiitis (GPA). This gingivitis has a very distinctive clinical appearance (so-called Strawberry gingivitis) and when seen is virtually pathognomic for GPA. Gingivitis often precedes other organ involvement therefore making awareness of this manifestation particularly import...
Article
Background Patients frequently report antibiotic allergies; however, only 10% of labelled patients have a true allergy. AimWe investigated the documentation of antibiotic allergy' labels (AAL) and the effect of labelling on clinical outcomes, in a West Australian adult tertiary hospital. Methods Retrospective cross-sectional analysis of patients ca...
Conference Paper
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Table of contents Oral Abstracts O1 Functionally distinct HMGB1 isoforms correlate with physiological processes in drug-induced SJS/TEN Daniel F. Carr, Wen-Hung Chung, Rosalind E. Jenkiins, Mas Chaponda, Gospel Nwikue, Elena M. Cornejo Castro, Daniel J. Antoine, Munir Pirmohamed O2 Hypersensitivity reactions to beta-lactams, does the t cell recogni...
Article
The objective of this study was to establish a population based reference range for a commercial immunoblot assay detecting myositis specific autoantibodies (MSAs) and myositis associated autoantibodies (MAAs), and to assess the diagnostic performance of this reference range against the manufacturer's recommended ranges in a myositis patient cohort...
Article
Extremely elevated polyclonal lgE of unknown etiology may indicate the presence of unsuspected B-cell lymphoma. In our patient, treatment of the lymphoma correlated with a reduction in serum lgE and complete resolution of the cutaneous vasculitis.
Article
Pollens of the Panicoideae subfamily of grasses including Bahia (Paspalum notatum) are important allergen sources in subtropical regions of the world. An assay for specific IgE to the major molecular allergenic component, Pas n 1, of Bahia grass pollen (BaGP) would have immunodiagnostic utility for patients with pollen allergy in these regions. Bio...
Article
Subcutaneous edema as a presenting feature of dermatomyositis has infrequently been described and is thought to signify a more aggressive disease course. We report a case involving a 38-year-old man who presented with significant subcutaneous edema involving his neck and upper body; he later developed clinical features and biopsy results consistent...
Article
IgG subclasses measurement is used in the investigation of patients with immunodeficiency and autoimmune diseases. In some patients a significant discrepancy between the sum of IgG subclasses (IgGsum) and total IgG may be seen. This study aimed to assess frequency and degree of such discrepancies in routine samples. Data were collected retrospectiv...
Article
Full-text available
The antinuclear antibody (ANA) test is widely used as a serological marker of autoimmune disease. Antinuclear antibodies are immunoglobulins or antibodies that bind to one or more antigens expressed within the nucleus of human cells. Used selectively, the ANA test can be a useful laboratory tool to help confirm or exclude the diagnosis of systemic...
Article
The postmortem diagnosis of anaphylaxis remains difficult due to the lack of specific biomarkers. Mast cell tryptase (MCT) levels are used as a marker of mast cell degranulation in living patients and elevated levels have also been described in postmortem serum samples in anaphylaxis-associated deaths, although elevated levels may also be seen in n...
Article
What is the test? Immunoglobulins are protein molecules. They contain antibody activity and are produced by the terminal cells of B-cell differentiation known as 'plasma cells'. There are five classes of immunoglobulin (Ig): IgG, IgM, IgA, IgD and IgE. In normal serum, about 80% is IgG, 15% is IgA, 5% is IgM, 0.2% is IgD and a trace is IgE. Quantit...
Article
A 63-year-old man was admitted for investigation of blurred vision and multiple ring-enhancing lesions on cranial MRI. Histopathological examination of tissue obtained at brain biopsy showed multiple Toxoplasma gondii cysts. He was started on a combination of sulphadiazine and pyrimethamine for cerebral toxoplasmosis and was subsequently diagnosed...

Citations

... A few studies have reported a positive correlation between serum globulin and IgG levels, and demonstrated the feasibility of using serum globulin level as a screening test for hypogammaglobulinemia (8,9,11). However, these studies did not consider potential factors that might influence the accuracy of prediction. ...
... Atypical or leaky SCID is characterised by a reduced number of CD3+ T cells for age, less than 30% of lower limit of normal T cell function as measured by proliferation with PHA, reduced or absent naïve T cells and absence of TME (10). Leaky SCID is a less severe form of SCID, occurs when a patient has symptoms similar to typical SCID, but with low T cell count which can also be detected by newborn screening (11). ...
... In 2020, the Australian and New Zealand Vasculitis Society was founded formally [26]. The ANCA were first described by Davis et al. in 1982 [27], helping to define AAV as a major category of small vessel vasculitis [28]. ...
... Patients with IBD were not shown to be more susceptible to severe COVID-19 unless treated with high-dose corticosteroids 4 and the pediatric IBD Porto Group of the European Society of Paediatric Gastroenterology, Hepatology, and Nutrition (ESP-GHAN) recommended to continue medical treatments including biologic agents in pediatric patients with IBD. 5 Accordingly, treating physicians of patients with pediatric IBD were instructed by the Israeli Society of Paediatric Gastroenterology, Hepatology, and Nutrition (ISPGHAN) to adopt a non-interruption strategy of IBD medical treatment and to recommend attendance of kindergartens and schools once approved for the general population by the Israeli Ministry of Health (MOH). ...
... It is important to note that there were a low number of participants from NZ and all were located in Auckland, where this region had prospectively studied the efficacy of utilizing the 2012 ESPGHAN guidelines in their local population [22]. It is interesting to note, however, that since the current survey was conducted, a Western Australian study has been published that reports prospectively applying the 2020 ESPGHAN guidelines to their local population [23], suggesting that local practice may be changing in this state. ...
... Another consideration is that thrombus formation may have contributed to the development of CRVO in this patient [11]. FMD has been shown to cause formation of venous thrombus in the femoral vein [12]. It is possible FMD of the retinal vasculature could create turbulent blood flow and promote thrombus formation and occlusion of the central retinal vein, especially in the setting of a patient who does not regularly take anti-hypertensive or anti-coagulant medication [13]. ...
... In temperate regions of Australia, and in similar climatic regions globally, pollens from temperate grasses (such as ryegrass) are major drivers of seasonal allergic rhinitis (SAR) and asthma risks, including epidemic thunderstorm asthma. [1][2][3][4] The effectiveness of temperate grass pollen allergen immunotherapy (AIT) has been wellcharacterized in SAR populations from the northern hemisphere, with evidence available from a number of large, double-blind, placebocontrolled, randomized trials for the short-and long-term treatment benefits of standardized AIT products. 5 However, there have been comparatively few studies of the effectiveness of temperate grass pollen AIT treatments in SAR patients from the southern hemisphere, who are frequently polysensitized to both temperate and subtropical grass pollens. ...
... It has been previously reported that chemotherapy for some cancers can result in reduced memory B cells frequency due to B-cell depletion and repopulation. The elevated naive and decreased memory B-cell numbers have been reported in other XMEN patients but the reasons remain unclear [14,15]. It may reflect defective glycosylation of costimulatory T-cell molecules (e.g., CD28) and their reduced cell surface expression which may have downstream consequences on B cells [5]. ...
... Cryptococcus gattii (Cg) is a fungal pathogen most recognized for a relatively large outbreak of cryptococcosis cases which occurred between 1997-2000 in the pacific northwest of north America while its sibling species, Cryptococcus neoformans, is mainly associated with deadly infections in AIDS patients world-wide (1)(2)(3). Although earlier reports suggested Cg to be a primary pathogen (4,5), recent literature suggests that Cg is an opportunistic pathogen which often infects patients with uncharacterized pre-existing immune deficits (6)(7)(8)(9)(10)(11)(12). Unlike C. neoformans, Cg infections most often remain pulmonary in patients (8,13) and experimental mouse models (14). ...
... In another investigation, Abnoos et al. prepared a CS-ALG nanocarrier for the transdermal delivery of pirfenidone (PFD) in idiopathic pulmonary fibrosis, a disease characterized by progressive dyspnea and pulmonary function loss [251,252]. CS-SA nanoparticles were developed by the pre-gelation technique, and the drug Pirfenidone, an anti-inflammatory and antifibrotic agent, was encapsulated with 94% efficiency. The prepared nanoparticles were evaluated using SEM, TEM, and DLS. ...