ALLSA

CURRENT ALLERGY & CLINICAL IMMUNOLOGY JOURNAL OF THE ALLERGY SOCIETY OF SOUTH AFRICA

Vol 37, No 1 March 2024

  • INBORN ERRORS OF IMMUNITY IN SOUTH AFRICA
  • Genetics and the expanding universe
  • Chediak Higashi Syndrome
  • Malignancy
  • Paediatric Neurology
  • The many faces of STK4 deficiency
  • Determinants of fractional exhaled nitric oxide
  • Ethics: Dealing with the difficult patient

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GUEST EDITORIAL: PATIENT AND CARER INVOLVEMENT: GETTING THE BASICS OF ALLERGY PRACTICE RIGHT

Author: André van Niekerk

Abstract: It was around 1973. Two years after the birth of David Vetter. David’s story captivated the mainstream media and the hearts of those who followed his sad case. He suffered from severe combined immunodeficiency (SCID) and his doctors tried to isolate him from microbes in a plastic bubble. NASA even made him a special ‘spacesuit’ for walkouts. David spent 12 years inside his bubble … and he did not die from an overwhelming infection. He died from lymphoma.

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REVIEW ARTICLE
INBORN ERRORS OF IMMUNITY IN SOUTH AFRICA: GENETICS AND THE EXPANDING UNIVERSE

Authors: Brigitte Glanzmann, Denise Scholtz, Ansia van Coller, Deepthi R Abraham, Maxine du Toit, Rina Nortje, Monika Esser, Richard Glashoff, Marlo Möller, Craig Kinnear

Abstract: Inborn errors of immunity (IEI) represent a diverse group of disorders resulting from monogenic defects in immune system genes. These defects cause individuals to be more susceptible to severe, persistent, unusual and recurrent infections, malignancies and autoimmune/autoinflammatory conditions. Recent advances in next-generation sequencing (NGS) technologies have transformed IEI diagnoses, as can be seen in the large increase of new variants identified in these disorders. However, many suspected IEI patients still lack a molecular diagnosis, emphasising the need for unbiased investigative approaches. The early diagnosis of IEI enables more effective treatments and ensures more precise genetic counselling, which help families to understand the disease, family planning and informed decision-making about testing. The establishment of registries is critical to capturing data on IEI patients, which can inform clinical care, raise awareness and respond to research questions in the field. In developing countries such as South Africa, the adoption of NGS technologies has the potential to transform the diagnosis and management of IEI, ultimately improving patient outcomes. This review highlights the significance of NGS technologies in the diagnosis and management of IEI, the importance of genetic counselling and the role of registries in advancing our understanding of these rare disorders, particularly in underserved regions.

Keywords: inborn errors of immunity, whole genome sequencing, whole exome sequencing, targeted gene panels, South Africa.

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Case Report
CHEDIAK-HIGASHI SYNDROME: A NOVEL MUTATION

Authors: Suvarna Buldeo, Ashendri Pillay, Antoinette Chateau, Anele Dube-Pule, Thirona Naicker

Abstract: At the age of six weeks, a female patient whose family was known to our clinic presented for elective screening. The white cells on her peripheral smear showed giant inclusions and the ophthalmological examination revealed aplastic fovea with hypopigmented fundi. A clinical diagnosis of Chediak-Higashi syndrome was made.

Keywords: Chediak-Higashi syndrome, aplastic fovea, hypopigmented fundi, HLH, LYST, novel mutation.

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Review article
INBORN ERRORS OF IMMUNITY AND MALIGNANCY

Authors: Nosisa Sipambo, Charl Verwey, David P Moore, Dianne Mackinnon, Refiloe Mopeli, Gita Naidu

Abstract: Persons with inborn errors of immunity (IEI) are at risk not only of recurrent and severe infections and autoimmunity, but also of malignancy. Malignancies arise from numerous mechanisms, ranging from persistent infection with oncogenic organisms and impaired immunologic surveillance of somatic cells with malignant potential to defective DNA repair mechanisms. This article highlights key current concepts regarding the epidemiology of cancer in persons with IEI and the mechanisms by which cancer may arise in these persons. Furthermore, we explore strategies of screening for and prevention of cancer in persons with IEI, and challenges imposed by the treatment of cancer in persons with IEI. Key concepts of cancer in the context of IEI are illustrated using 22 q11.2 deletion syndrome, ataxia telangiectasia, common variable immunodeficiency, selective IgA deficiency, severe combined immunodeficiency and Wiskott-Aldrich syndrome as illustrative IEI conditions.

Keywords: cancer, inborn errors of immunity, IEI, autoimmunity, haematopoietic malignancy, solid malignancy, children, adolescents, adults.

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Review article
INBORN ERRORS OF IMMUNITY IN PAEDIATRIC NEUROLOGY

Authors: Izelle Smuts, Freda P Human

Abstract: Inborn errors of immunity has become a rapidly evolving medical field, with nearly 500 conditions; as a result, the sheer volume of information can be overwhelming. In order to make a sound diagnosis, clinicians must adopt an integrative approach and identify all related and seemingly unrelated features. It is therefore crucial to understand the complex networks and interactions between organelles, cells, pathways and organ systems thoroughly. The immune system is an important stakeholder in all these networks. It is designed to be our friend, defending and protecting us by regulating tolerance. However, it can also turn into an enemy. Every individual has their own unique combination of genetic predisposition, trigger factors and environmental factors that contribute to the spectrum of neurological diseases. The main objective of this article is to create a mind map that starts with the clinical presentation.

Keywords: inborn errors of immunity, neurology, genetic predisposition, paediatric, networks.

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Case Report
THE MANY FACES OF STK4 DEFICIENCY

Authors: Mimi Deetlefs, Cascia Day, Jonny Peter

Abstract: Serine-threonine kinase 4 (STK4) or mammalian sterile 20-like protein kinase 1 (MST1) is the mammalian homolog of the Drosophila Hippo protein, which controls cell growth, apoptosis and tumorigenesis. STK4 deficiency is a rare autosomal recessive disease which leads to a combined immunodeficiency with severe T-cell neutropenia. In addition to susceptibility to various infections, patients are also at risk of haematological abnormalities, autoimmunity, allergies and malignancies.

Keywords: serine-threonine kinase 4, STK4, mammalian sterile 20-like protein kinase.

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Allergies in the Workplace
DETERMINANTS OF FRACTIONAL EXHALED NITRIC OXIDE IN WORKERS AT RISK OF DEVELOPING OCCUPATIONAL RESPIRATORY ALLERGY AND ASTHMA: A REVIEW

Authors: Phinias Mfune, Mohamed F Jeebhay

Abstract: Fractional exhaled nitric oxide (FeNO) is a non-invasive biomarker of eosinophilic airway inflammation. FeNO is elevated in allergic asthma and its production increases in the airways in the presence of Type-2 inflammation. Both individual and occupational factors are associated with increased FeNO in workers with occupational asthma. This review focuses on identifying the specific predictors of elevated FeNO in workers at risk of developing occupational respiratory allergy and asthma, with a specific focus on those settings where it is used for medical screening and surveillance. The review found that individual factors such as age and atopy are associated with increased FeNO, whereas smoking and inhaled steroid use are consistently associated with decreased FeNO levels. Occupational factors such as exposure to either high or low molecular weight agents, occupational allergic sensitisation, the nature of work, the duration of employment and the level of exposure to occupational allergen(s) are associated with elevated FeNO. More recent evidence suggests that it is the agent’s ability to induce an IgE-mediated mechanism, and not its molecular weight or its nature, that is responsible for elevated FeNO levels in occupationally exposed workers. Stronger epidemiological study designs such as cohort studies are needed that offer better opportunities to investigate these relationships in a more refined manner.

Keywords: FeNO, occupational allergy, asthma, occupational respiratory allergy, sensitisation.

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Ethics Article
DEALING WITH THE DIFFICULT PATIENT

Author: Sharon Kling

Abstract: Difficult patient encounters are relatively common in clinical practice. Most of the difficult encounters occur in the setting of chronic illness and/or mental illness, often with adjunctive factors such as poverty and other social problems. In paediatrics, the risk is that the child may be ejected from the practice if their parents are difficult. Patient, physician and system factors all contribute to difficult patient encounters. Managing a difficult encounter involves listening actively to the patient, identifying the emotion and expressing empathy, exploring different ways of managing the situation and providing closure by agreeing on a way forward.

Keywords: difficult patient, clinical practice, management.

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DR SPUR’S MYSTERY CASE
Monthly fevers? Can you AID me with this family’s grievances??

Authors: Lizelle Nagel, Miguel Jose Teixeira, Sylvia van den Berg, André van Niekerk

Abstract: Inflammation is a very important protective immune response that may cause persistent infection if it is inadequate, and chronic inflammatory disease if it is excessive. Autoinflammation refers to a category of monogenic systemic inflammatory disorders with periodic fever as a central feature, disorders that are distinct from autoimmunity. Autoimmunity results from errors in adaptive immunity and is associated with autoantibody production and specific HLA II alleles.

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ABC of Allergy
Allergy to topical medication

Authors: Shaunagh Emanuel and Di Hawarden

Abstract: Dr Do-a-lot presents a case of a young woman who suffers from papular urticaria due to insect bites. She visited the clinic because her red itchy skin rash was worsening despite applying a corticosteroid cream to calm the inflammation. ‘Could it be the steroid cream that is causing the worsening.

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