Expert views: Primary Immunodeficiency Diseases: clinical and diagnostic services in IPPT

Zarina Thasneem Zainudeen; Intan Juliana Abd Hamid; Ilie Fadzilah Hashim

Expert Column

Expert views: Primary Immunodeficiency Diseases: clinical and diagnostic services in IPPT

Zarina Thasneem Zainudeen, Intan Juliana Abd Hamid, Ilie Fadzilah Hashim

Published : 24 July 2020

Primary immunodeficiency diseases (PID) is a disease caused by defective immune system leading to increased susceptibility to infection and maybe fatal. It involves diverse phenotype which may include susceptibility to infections, allergy, immune dysregulations and auto-inflammation. With the advent of exome and genome sequencing, more than 350 identified genetic defect causing monogenic PID worldwide.

Each individual has his or her own blueprint, a map made up of millions of bits of information called genes. The gene-map of each individual is a unique mix of genes from the mother and father. This map instructs the body how to build and how to maintain itself. Sometimes there are malfunctions in this map. When it fails to produce a functioning immune system, the disease resulting is called a primary immune deficiency (PI). Sometimes there may be a history of such a malfunction in the family, but often there is not. It all depends upon how the genes of the parents have come together to make up the blueprint for a unique and distinct individual.

In 2019, the Primary Immunodeficiency Disease Group officially launched a diagnostic and treatment service, catering for clinical referrals from Northern and Eastern Malaysia (Kelantan and Terengganu). The service comprises a clinical service and diagnostic lab which does some immunological tests like T, B and NK cells enumeration, serum immunoglobulin (Ig) and allergy tests. There are also tests for specific antibody production. These tests measure how well the immune system responds to vaccines.

The team is headed by Dr Intan Juliana Abd Hamid, a Paediatric Immunologist, supported by two scientists (Dr Zarina Thasneem Zainudeen and Dr Ilie Fadzilah Hashim) working on functional and molecular/genetic aspects of PID and two staff nurses. This centre is also listed on Jeffrey Modell Foundation website.

Our PID Clinic location : https://goo.gl/maps/11JXSKAzT69XaSQA7

Prepared by:

Dr. Zarina Thasneem Zainudeen

(University Lecturer (DS51))

Dr. Intan Juliana Abd Hamid

(Paediatric Immunology & Allergy)

Dr. Ilie Fadzilah Hashim

(University Lecturer (DS51))