Creating Awareness for Primary Immunodeficiencies in the Southeast and East Asia Regions

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172

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articles

Creating Awareness for Primary Immunodeficiencies in the Southeast and East Asia Regions

91.7K

views

172

authors

19

articles

Editorial

11 May 2022

Editorial: Creating Awareness for Primary Immunodeficiencies in the Southeast and East Asia Regions

Intan Hakimah Ismail

,

Hirokazu Kanegane

and

Xiaodong Zhao

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Editors

3

Intan Hakimah Ismail

Faculty of Medicine and Health Sciences, Universiti Putra Malaysia

Hirokazu Kanegane

Tokyo Medical and Dental University

Chongqing Medical University

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Primary immunodeficiencies (PIDs) are genetic disorders of inborn errors of immunity with broad clinical manifestations, ranging from increased susceptibility to infections, auto-inflammation, autoimmunity, lymphoproliferation, allergy, and predisposition to malignancy. While PIDs are individually rare and considered orphan diseases, collectively they affect 1:1,200 of the general population and represent a significant burden of disease.

PID is an emerging disease in many parts of Asia including East Asia (EA) and Southeast Asia (SEA). Reports are filtering from SEA and EA regions that PID are more common than usually thought of and constitutes an evolving disease and needs to be addressed. These disorders receive less attention compared to the other established diseases. This is because awareness is lacking therefore the disease is often underreported. The possibilities that of the published reports of PID in SEA, it is only between 0.1% - 2.27% of its true prevalence.

The problem is compounded by a delay of diagnosis, hence delays in treatment with consequent high morbidity and mortality. As long as the gravity of the problem is not felt, an effort to improve patient care would be delayed. That would be unfortunate as specific treatment modalities are available and in some cases, even cure if diagnosed early.

In resource-restricted countries, the availability of hematopoietic stem cell transplantation, a life-saving procedure for severe combined immunodeficiency, is limited. Furthermore, long-term follow-up and outcome data are largely unavailable for PID in SEA. Although there has been a rapid progression of molecular techniques in the West in diagnosing PIDs, SEA countries lacking both resources and expertise in PID remain are at a significant disadvantage. On a different note, East Asian countries on such as Japan, China, and Korea have shown amazing advances in genetic technology, allowing rapid progress in unraveling the genetic basis of many types of PIDs.

This Research Topic aims to bring together the work of researchers in PID and to create awareness of PID in the region of Southeast Asia and East Asia. We hope to shed more light on PIDs in countries with limited resources to bridge the research gap especially in clinical and immunological characterization, pathogenesis, and treatment of PID. Apart from that, we would like to hear more remarkable clinical and genetic findings of PIDs within the EA countries. As the wave of the COVID-19 pandemic has tightened its grip across countries in the world, we would like to gather information on PID practices in SEA and EA in the age of the pandemic.

We welcome submissions of Original Research, Reviews, Methods, and Case Reports articles related to PID in SEA and EA. We welcome the submission of manuscripts focusing on, but not restricted to, the following themes:

1. Epidemiology of PID according to the geographical areas

2. Phenotypes and genotypes of PIDs

3. Infectious diseases unique to SEA and EA and their relation to PID

4. Clinical and laboratory diagnostics and clinical translational research

5. Clinical approach of diagnosis and management of PID, including vaccinations in PID

6. The application of flow cytometry in the study of immune cells in PIDs

7. Access to treatments of PID in SEA and EA including immunoglobulin replacement therapy and stem cell transplantation

8. Advances in the care of PID and cutting-edge treatment in PID – would the therapy help SEA and EA countries in the future?

9. Newborn screening for PID in developing countries – are we there yet?

10. Clinical Impact of COVID-19 on patients with PID in SEA and EA

Primary immunodeficiencies (PIDs) are genetic disorders of inborn errors of immunity with broad clinical manifestations, ranging from increased susceptibility to infections, auto-inflammation, autoimmunity, lymphoproliferation, allergy, and predisposition to malignancy. While PIDs are individually rare and considered orphan diseases, collectively they affect 1:1,200 of the general population and represent a significant burden of disease.

PID is an emerging disease in many parts of Asia including East Asia (EA) and Southeast Asia (SEA). Reports are filtering from SEA and EA regions that PID are more common than usually thought of and constitutes an evolving disease and needs to be addressed. These disorders receive less attention compared to the other established diseases. This is because awareness is lacking therefore the disease is often underreported. The possibilities that of the published reports of PID in SEA, it is only between 0.1% - 2.27% of its true prevalence.

The problem is compounded by a delay of diagnosis, hence delays in treatment with consequent high morbidity and mortality. As long as the gravity of the problem is not felt, an effort to improve patient care would be delayed. That would be unfortunate as specific treatment modalities are available and in some cases, even cure if diagnosed early.

In resource-restricted countries, the availability of hematopoietic stem cell transplantation, a life-saving procedure for severe combined immunodeficiency, is limited. Furthermore, long-term follow-up and outcome data are largely unavailable for PID in SEA. Although there has been a rapid progression of molecular techniques in the West in diagnosing PIDs, SEA countries lacking both resources and expertise in PID remain are at a significant disadvantage. On a different note, East Asian countries on such as Japan, China, and Korea have shown amazing advances in genetic technology, allowing rapid progress in unraveling the genetic basis of many types of PIDs.

This Research Topic aims to bring together the work of researchers in PID and to create awareness of PID in the region of Southeast Asia and East Asia. We hope to shed more light on PIDs in countries with limited resources to bridge the research gap especially in clinical and immunological characterization, pathogenesis, and treatment of PID. Apart from that, we would like to hear more remarkable clinical and genetic findings of PIDs within the EA countries. As the wave of the COVID-19 pandemic has tightened its grip across countries in the world, we would like to gather information on PID practices in SEA and EA in the age of the pandemic.

We welcome submissions of Original Research, Reviews, Methods, and Case Reports articles related to PID in SEA and EA. We welcome the submission of manuscripts focusing on, but not restricted to, the following themes:

1. Epidemiology of PID according to the geographical areas

2. Phenotypes and genotypes of PIDs

3. Infectious diseases unique to SEA and EA and their relation to PID

4. Clinical and laboratory diagnostics and clinical translational research

5. Clinical approach of diagnosis and management of PID, including vaccinations in PID

6. The application of flow cytometry in the study of immune cells in PIDs

7. Access to treatments of PID in SEA and EA including immunoglobulin replacement therapy and stem cell transplantation

8. Advances in the care of PID and cutting-edge treatment in PID – would the therapy help SEA and EA countries in the future?

9. Newborn screening for PID in developing countries – are we there yet?

10. Clinical Impact of COVID-19 on patients with PID in SEA and EA

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Editors

Intan Hakimah Ismail

Faculty of Medicine and Health Sciences, Universiti Putra Malaysia

Hirokazu Kanegane

Tokyo Medical and Dental University

Chongqing Medical University

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Frontiers in Immunology

Primary Immunodeficiencies

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