FIRST SUCCESSFUL BONE MARROW TRANSPLANTATION FOR CHRONIC GRANULOMATOUS DISEASE AS A RESULT OF EARLY DIAGNOSIS IN IPPT

IPPT SAINS@BERTAM, 8 May 2020 – A Paediatric Immunologist at the Universiti Sains Malaysia (USM) Advanced Medical and Dental Institute (IPPT), Dr. Intan Juliana Abd. Hamid received a baby boy whom was referred to her when the baby was in utero at 32 weeks of gestation.

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The baby’s mother has a prior family history, where her 2 sons have previously died at the age of 2 years old, the first son due to disseminated BCG-itis and the second as a result of meningitis.

Due to the history of recurrent infections, they were investigated and the second son was found to have Chronic Granulomatous Disease (CGD).

Based on these indications, a member of the IPPT Primary Immunodeficiency Disease (PID) Research Group, Dr. Zarina Thasneem Zainudeen performed a flow cytometry-based oxidative burst assay (test) on day 7 after the baby boy was born.

The same assay test was also performed on his family members. The results from the assay showed that the baby boy has CGD.

The baby boy was later referred to the Paediatric Bone Marrow Transplant Unit at Hospital Tunku Azizah in Kuala Lumpur.

This has led to a successful allogeneic haematopoietic stem cell transplantation (HSCT) from an identified matched sibling donor, performed on 17th March 2020.

In a situation where there were limited resources and access to genetic tests, flow cytometric analysis is beneficial.

Initial results would help the physician to determine what other investigative procedures are needed to arrive at a definite diagnosis and to initiate other necessary actions such as deferring the live vaccines administration, starting antibiotic prophylaxis, doing early donor search and preparing for HSCT.

This also emphasised the importance of early diagnosis, leading to early curative therapy and better survival outcomes.

IPPT is now extending the PID service to include post-HSCT follow-up care. This is a major step in providing such expertise and patient care, which are close to the standards of those in the developed countries.

We are all thankful for another success story!

Text: Dr. Zarina Thasneem Zainudeen/Dr. Intan Juliana Abd Hamid

Editing: Mazlan Hanafi Basharudin & Tan Ewe Hoe

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