Allergic rhinitis (AR) is an IgE-mediated inflammatory disease of the upper airway. AR affects the patients' quality of life, is a known risk factor for asthma and a socio-economic burden. ...Allergen-specific immunotherapy (AIT), comprising sublingual immunotherapy (SLIT) and subcutaneous immunotherapy (SCIT), involves administering increasing doses of the causative allergen to induce clinical and immunologic tolerance to the allergens. It is the only currently available treatment for AR that has been proven to induce disease-modifying effects (i.e., long-term remission of allergic symptoms or potential prevention of asthma and new sensitizations). Although AIT is conventionally recommended for patients who are non-responsive to symptom-relieving pharmacotherapy, it is presently recommended as a first-line treatment for patients with moderate to severe AR who prefer a treatment with the potential for long-term remission. In light of the relatively recent implementation of AIT in Malaysia, guidelines on its appropriate indication and application are important to attain optimal outcomes. This consensus statement was developed by an expert group formed by the Malaysian Society of Allergy and Immunology to provide evidence-based recommendations for the practice of AIT in Malaysia. Patient and product selection, choice of AIT, and strategy towards an effective treatment outcome in AIT are presented.
H1-antihistamines are recognized to be effective for conditions such as allergic rhinitis and chronic spontaneous urticaria. However, management of such conditions in the real-world primary care ...setting may be challenging due to diverse patient-specific considerations, the wide range of antihistamines available, choice of other treatment modalities, and the complexity of interpreting specialist treatment algorithms. Despite regular updates to international guidelines, regional/national surveys of healthcare professionals show a clear gap between guidelines and real-world practice, particularly at the primary care level. This article thus presents the consensus opinion of experts from relevant specialties in Malaysia - allergology, pediatrics, otorhinolaryngology, and dermtology - on harmonizing the use and choice of antihistamines in primary care. Patient profiling is recommended as a tool to guide primary care practitioners in prescribing the appropriate antihistamine for each patient. Patient profiling is a three-step approach that involves 1) identifying the individual's needs; 2) reviewing patient-specific considerations; and 3) monitoring treatment response and referral to specialists in more severe or difficult-to-treat cases. Concurrently, guidelct 3ines should be reviewed and updated periodically to include recommendations that are easily actionable for primary care practitioners.
Background
Bruton’s tyrosine kinase (BTK) is a cytoplasmic protein involved in the B cell development. X-linked agammaglobulinemia (XLA) is caused by mutation in the
BTK
gene, which results in very ...low or absent B cells. Affected males have markedly reduced immunoglobulin levels, which render them susceptible to recurrent and severe bacterial infections. Methods: Patients suspected with X-linked agammaglobulinemia were enrolled during the period of 2010-2018. Clinical summary, and immunological profiles of these patients were recorded. Peripheral blood samples were collected for monocyte BTK protein expression detection and
BTK
genetic analysis. The medical records between January 2020 and June 2023 were reviewed to investigate COVID-19 in XLA.
Results
Twenty-two patients (from 16 unrelated families) were molecularly diagnosed as XLA. Genetic testing revealed fifteen distinct mutations, including four splicing mutations, four missense mutations, three nonsense mutations, three short deletions, and one large indel mutation. These mutations scattered throughout the
BTK
gene and mostly affected the kinase domain. All mutations including five novel mutations were predicted to be pathogenic or deleterious by
in silico
prediction tools. Genetic testing confirmed that eleven mothers and seven sisters were carriers for the disease, while three mutations were
de novo
. Flow cytometric analysis showed that thirteen patients had minimal BTK expression (0-15%) while eight patients had reduced BTK expression (16-64%). One patient was not tested for monocyte BTK expression due to insufficient sample. Pneumonia (n=13) was the most common manifestation, while
Pseudomonas aeruginosa
was the most frequently isolated pathogen from the patients (n=4). Mild or asymptomatic COVID-19 was reported in four patients.
Conclusion
This report provides the first overview of demographic, clinical, immunological and genetic data of XLA in Malaysia. The combination of flow cytometric assessment and
BTK
genetic analysis provides a definitive diagnosis for XLA patients, especially with atypical clinical presentation. In addition, it may also allow carrier detection and assist in genetic counselling and prenatal diagnosis.
Inborn errors of immunity (IEI) (also known as primary immunodeficiencies) is an umbrella term for a growing group of over 450 different disorders that are characterized by defects in some of the ...components of the immune system. IEI are chronic diseases of genetic origin that render individuals suffering from them susceptible to infections. The mainstay of treatments for most patients with IEI, that is, predominantly antibody deficiencies is immunoglobulin replacement therapy (IRT), which is commonly delivered intravenously. Immunoglobulin (IG) therapy contains antibodies to compensate for the defective immune system's inability to produce them. Individuals with IEI need IRT regularly throughout their lives to help combat infections and prevent organ damage. Without IRT, they are in danger of suffering from morbidity, poor quality of life, and reduced life expectancy. In the last 20 years, the use of IG preparation has tripled and this is partly attributed to the growing awareness and improved diagnoses of IEI cases. IG preparations are also used for the treatment of other medical conditions including secondary immunodeficiencies and autoimmune diseases. As IG is derived from human plasma, there are concerns about the availability of supply, particularly to treat life-threatening conditions that cannot be improved with other medications. It is estimated that 75% to 80% of IEI patients do not have access to adequate IG therapy throughout the world. This concern of supply and other challenges faced by patients with IEI in Malaysia are described from the patients' perspective.
The Asia Pacific Society for Immunodeficiencies (APSID) conducted nine primary immunodeficiency (PID) Schools in 5 years since inauguration to provide PID care training for early career physicians in ...Asia Pacific, a region with divergent needs in PID resources and training.
To identify differences in PID patient care resource and training needs across Asia Pacific and propose a corresponding action plan.
The Human Development Index (HDI) indicates the degree of socio-economic development in each country/region. Information related to investigations and learning issues were extracted from the abstracts and personal statements from all Schools and mapped onto resource and training needs. Correlations between HDI and country/region-specific parameters were tested by two-tailed Pearson correlation.
A total of 427 abstracts were received in nine Schools between 2015 and 2020, predominantly on immunodeficiencies affecting cellular and humoral immunity. Genetic confirmation was described in 61.8% of abstracts, and its absence negatively correlated with HDI (
= -0.696,
= 0.004). Essential immunologic and genetic tests were not available in 25.4 and 29.5% of abstracts, respectively, and their absence negatively correlated with HDI (
= -0.788,
< 0.001;
= -0.739,
= 0.002). HDI positively correlated with average testing level (
= 0.742,
= 0.002). Cases from medium-HDI countries/regions focused on learning how to investigate a patient for PIDs in cases of severe or atypical infections, whereas those from very-high-HDI countries/regions, from which most faculty members originated, listed hematopoietic stem cell transplantation and gene therapy, newborn screening, and research as learning issues more frequently.
There are unique HDI-related PID resource and training needs in each country/region. APSID proposes HDI group-specific strategies to improve PID care and education in her member countries/regions. Further quantitative analysis of needs in PID care in Asia Pacific is needed for lobbying governments to increase their support for PID care and research.
Food allergy has a significant impact on the quality of life (QoL) of children and can be measured using The Food Allergy Quality of Life Questionnaire-Parent Form (FAQLQ-PF). This study aimed to ...adapt, translate the FAQLQ-PF into Malay and determine the validity and reliability of the translated version. This cross-sectional questionnaire validation study was conducted among parents of children (0 to 12 years old) with food allergies across five sites in Selangor and Kuala Lumpur, Malaysia. The FAQLQ-PF-Malay underwent cross-cultural adaptation, translation, validation (content, face and construct) and reliability assessment. Exploratory factor analysis, internal consistency and test-retest reliability analyses were used to examine its construct validity and reliability. Out of 150 children, the majority were between the age of 7 to 12 years old (41%) and were female (81%). Three subscales were identified, which were: (i) social and dietary implication, (ii) food anxiety and (iii) emotional and physical impact. Four items were eliminated because of weak factor loadings. The Cronbach’s alpha for each subscale ranged from 0.88 to 0.94, with an overall Cronbach’s alpha of 0.95. The intra-class correlation coefficient ranged from 0.54 (95% CI: 0.10–0.77) to 0.97 (95% CI: 0.90–0.99). The 26-item FAQLQ-PF-Malay retained the three-factor structure of the original FAQLQ-PF. The FAQLQ-PF-Malay is a valid and reliable tool to assess the QoL of Malaysian children with food allergies.
There is a scarcity in both epidemiological studies and forecast models on the impact of air pollution on respiratory allergic responses in Malaysia. The quantification of baseline allows for an ...understanding of the severity of the impact and target areas for intervention. High-quality forecasts not only provide information for the assessment of potential outcomes but also the dissemination of public health warnings, such as the application of mobile-based early warning systems. There is a need for a data repository system that facilitates research on such studies. However, a call for more evidence should not put a pause on actions and future plans that will help reduce pollution emission and exposure to air pollutants as there are sufficient evidence to indicate that air pollutants impact health.
Severe combined immunodeficiencies (SCID) are a group of rare inherited disorders with profound defects in T cell and B cell immunity. From 2005 to 2010, our unit performed testing for
IL2RG
,
JAK3
,
...IL7R
,
RAG1
,
RAG2
,
DCLRE1C
,
LIG4
,
AK2
, and
ZAP70
mutations in 42 Chinese and Southeast Asian infants with SCID adopting a candidate gene approach, based on patient’s gender, immune phenotype, and inheritance pattern. Mutations were identified in 26 patients, including
IL2RG
(
n
= 19),
IL7R
(
n
= 2),
JAK3
(
n
= 2),
RAG1
(
n
= 1),
RAG2
(
n
= 1), and
DCLRE1C
(
n
= 1). Among 12 patients who underwent hematopoietic stem cell transplantation, eight patients survived. Complications and morbidities during transplant period were significant, especially disseminated bacillus Calmette–Guérin disease which was often difficult to control. This is the first cohort study on SCID in the Chinese and Southeast Asian population, based on a multi-centered collaborative research network. The foremost issue is service provision for early detection, diagnosis, management, and definitive treatment for patients with SCID. National management guidelines for SCID should be established, and research into an efficient platform for genetic diagnosis is needed.
Purpose
Primary immunodeficiency disease (PID) affects various aspects of a patient’s life. However, the health-related quality of life (HRQOL) of PID among Malaysian patients is poorly described. ...This study aimed to determine the quality of life of PID patients and their respective parents.
Method
This cross-sectional study was performed from August 2020 to November 2020. Patients with PID and their families were invited to answer the PedsQL Malay version (4.0) questionnaire, the tool used to assess the HRQOL. A total of 41 families and 33 patients with PID answered the questionnaire. A comparison was performed with the previously published value of healthy Malaysian children.
Result
Parents of respondents recorded a lower mean of total score than the parents of healthy children (67.26 ± 16.73 vs. 79.51 ± 11.90,
p
-value = 0.001, respectively). PID patients reported lower mean total score to healthy children (73.68 ± 16.38 vs. 79.51 ± 11.90,
p
-value = 0.04), including the psychosocial domain (71.67 ± 16.82 vs. 77.58 ± 12.63,
p
-value = 0.05) and school functioning (63.94 ± 20.87 vs. 80.00 ± 14.40,
p
-value = 0.007). No significant difference of reported HRQOL when comparing between subgroup of PID on immunoglobulin replacement therapy and those without immunoglobulin replacement (56.96 ± 23.58 vs. 65.83 ± 23.82,
p
-value 0.28). Socioeconomic status was found to be predictive of the lower total score of PedsQL in both parent and children reports.
Conclusion
Parents and children with PID, especially those from middle socioeconomic status, have lower HRQOL and school function impairment than healthy children.
Air pollution, climate change, and reduced biodiversity are major threats to human health with detrimental effects on a variety of chronic noncommunicable diseases in particular respiratory and ...cardiovascular diseases. The extent of air pollution both outdoor and indoor air pollution and climate change including global warming is increasing-to alarming proportions particularly in the developing world especially rapidly industrializing countries worldwide. In recent years, Asia has experienced rapid economic growth and a deteriorating environment and increase in allergic diseases to epidemic proportions. Air pollutant levels in many Asian countries especially in China and India are substantially higher than are those in developed countries. Moreover, industrial, traffic-related, and household biomass combustion, indoor pollutants from chemicals and tobacco are major sources of air pollutants, with increasing burden on respiratory allergies. Here we highlight the major components of outdoor and indoor air pollutants and their impacts on respiratory allergies associated with asthma and allergic rhinitis in the Asia-Pacific region. With Asia-Pacific comprising more than half of the world's population there is an urgent need to increase public awareness, highlight targets for interventions, public advocacy and a call to action to policy makers to implement policy changes towards reducing air pollution with interventions at a population-based level.
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