As Malaysia joins the global community to observe World Primary Immunodeficiency (PI) Week from April 22 to 29, 2026, the spotlight falls on a hidden group of over 500 genetically defined disorders that compromise the human immune system.
These conditions, now scientifically classified as Inborn Errors of Immunity (IEI), act as malfunctions in an individual’s genetic blueprint, leaving them unable to defend against life-threatening infections.
The Malaysian Reality: A Diagnostic Gap
Despite the global impact of PIDs, Malaysia faces a striking discrepancy in its data. A systematic review as of 2020 reported a local prevalence of only 0.37 per 100,000 people.
This is significantly lower than global registries, leading experts to postulate that 70 to 90 per cent of Malaysian cases remain undiagnosed and undetected.
Addressing this gap is now a national priority. On February 4, 2026, the Ministry of Health (MOH) launched the National Policy for Rare Diseases. Health Minister Dzulkefly Ahmad has emphasised that this reform aims to strengthen clinical governance and enhance early detection, ensuring rare diseases are moved from the margins to the mainstream healthcare agenda
The Knowledge Gap: Questionnaire Findings On Expanded Newborn Screening
A critical barrier to early detection is the awareness level among frontline healthcare providers. A study conducted at Universiti Sains Malaysia (USM), published in the Malaysian Journal of Medicine and Health Sciences, investigated the knowledge, attitudes, and practices regarding expanded Newborn Screening (NBS).
The questionnaire findings revealed a notable knowledge gap among medical practitioners regarding the implementation and utility of expanded NBS.
This gap is a major concern for policy makers, as it directly contributes to diagnostic delays. When doctors are unaware of the benefits of expanded screening, children with severe immune defects may not be identified until they suffer from irreversible organ damage or severe infections
Why Expanded Newborn Screening Is Vital
Currently, Malaysia faces a total lack of published evidence or reports regarding newborn screening for PID patients. This is particularly dangerous for conditions like Severe Combined Immunodeficiency (SCID).
Infants with SCID often appear healthy at birth but lack the T and B cells necessary to fight infection.
“Early identification of SCID through screening of all newborns can make possible life-saving intervention before infections occur,” the sources state.
Without this screening, children often face a harrowing journey of recurrent abscesses, pneumonia, and failure to thrive before a diagnosis is finally reached.
Recognising The Warning Signs
While policy shifts occur, public awareness remains the first line of defence. The Malaysian Patient Organisation for Primary Immunodeficiencies (MYPOPI) has highlighted several warning signs that should prompt a consultation with an immunology expert:
- Four or more new ear infections within one year.
- Two or more severe sinus infections within one year.
- Failure to thrive (insufficient weight gain or growth).
- Two or more months on antibiotics with little effect.
- A family history of primary immunodeficiency.
The Path To Precision Medicine
Modern diagnostics are evolving toward precision medicine. Tools such as Whole Exome Sequencing (WES) and targeted genetic panels now allow clinicians to identify specific mutations among 500+ known PID genes.
Furthermore, TBNK flow cytometry tests can quickly quantify essential immune cells like T, B, and Natural Killer (NK) cells to direct treatment.
For many Malaysian patients, treatment is already accessible. Intravenous Immunoglobulin (IVIg), a life-saving therapy for those with antibody deficiencies, is subsidised in public hospitals across the country.
For more severe cases, Hematopoietic Stem Cell Transplantation (HSCT) remains the only permanent cure, with success rates exceeding 90 per cent when performed early.
A Call To Action
To secure the future of PID care, the sources advocate for:
- National Expanded Newborn Screening for early identification of disorders like SCID at birth.
- Specialised training to bridge the practitioner knowledge gap identified in local surveys.
- Increased clinical support, aiming for at least one clinical immunologist in every regional hospital.
Specialised care is available at centres like the Primary Immunodeficiency Diseases Service at Pusat Kanser Tun Abdullah Ahmad Badawi, Universiti Sains Malaysia, Pantai Hospital, Hospital Tunku Azizah, Hospital Pakar Kanak-Kanak, Universiit Kebangsaan Malaysia, and Hospital Sultan Abdul Aziz Shah, Universiti Putra Malaysia.
By integrating clinical expertise with genetic insights and expanded screening, Malaysia can ensure that every child’s genetic blueprint leads to a healthy future.
Dr Zarina Thasneem Zainudeen is from the Primary Immunodeficiency Diseases Group, Department of Clinical Medicine, Pusat Kanser Tun Abdullah Ahmad Badawi, Universiti Sains Malaysia, Penang. Assoc Prof Dr Intan Juliana Hamid is from Pusat Kanser Tun Abdullah Ahmad Badawi, Universiti Sains Malaysia, and also president of the Malaysian Paediatric Association.
- This is the personal opinion of the writer or publication and does not necessarily represent the views of CodeBlue.
