A National Primary Immunodeficiency Registry for Malaysia: A Systematic Review and Evidence-Based Implementation Framework

Abstract

Primary immunodeficiencies (PIDs) are rare disorders whose accurate surveillance, equitable care, and effective health policy depend on robust national data infrastructure. Malaysia lacks a national PID registry, creating a critical public health data gap that impedes disease burden estimation, resource planning, and patient outcomes. This systematic review searched 3 major electronic databases (Web of Science Core Collection, Scopus, and PubMed) for the period 2015-2025, following Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines with narrative thematic analysis identified system-level barriers to PID data management and developed an evidence-based registry framework to address them. Forty-one global studies from 15 countries (including 8 from Malaysia) revealed that underdiagnosis, diagnostic delays, fragmented data systems, and limited professional awareness compound the absence of national registry infrastructure. The proposed framework integrates a Minimum Data Set aligned with International Union of Immunological Societies classification, multidisciplinary governance, secure role-based technical infrastructure, automated validation, and audit mechanisms covering demographics, clinical, diagnostic, treatment, and outcome domains. A national PID registry in Malaysia is feasible through phased implementation, and would meaningfully strengthen disease surveillance, enable collaborative research, and inform health policy, thus translating a documented data gap into improved population-level outcomes.