Awareness is crucial to pave the way for early diagnosis and timely treatment of Primary Immunodeficiency Disorders (PIDs) in children, say doctors.
In line with World Primary Immunodeficiency Week observed from April 22 to 29, doctors of Apollo Cancer Centres (ACC) on Tuesday, April 30, 2024, raised the need for awareness and delved into the challenges posed by PIDs.
Noting that all PIDs are genetic, Revathi Raj, senior consultant, Paediatric Haematology Oncology, ACC, Chennai, put forward the need for primary paediatricians to think about PIDs. Considering that consanguineous marriages are high, immune system defects are much higher and so, awareness is important, she said.
Infections are the most common presentation in PIDs, Vidya Krishna, consultant, Infectious Diseases, Paediatric and Adults, ACC, pointed out. Recurrent, persistent, unusual and serious types of infections help in suspecting PIDs. “The most important aspect is family history,” she noted.
What is normal? In young children, coughs, colds and fevers occurring six to eight times in a year or sometimes 10 to 15 times a year and not requiring antibiotics every time to clear infections and coughs often lasting 10 to 15 days after viral infections was normal, taking other factors into consideration she explained.
Pattern recognition is the key to diagnosis, she said, adding that some clues for PIDs include failure to gain weight, severe adverse reactions to BCG vaccine, recurrent chest/sinus, skin infections, recurrent fever requiring antibiotics and unusual viral, fungal and bacterial infections. Awareness and early referrals, pattern recognition of infections, systematic evaluation and appropriate diagnostic tests are necessary.
Thulasi Raman, consultant, Haematopathologist and Flow Cytometrist, at ACC, said screening investigations that include complete blood counts, peripheral blood smears, immunoglobulin profiles and Nitroblue Tetrazolium Tests are done. In case of any findings, advanced investigations with flow cytometry to study immune cells and next generation sequencing to detect genetic defects are done.
Ramya Uppuluri, consultant, Paediatric Haematology Oncology, ACC, said PID could be fatal, and hence, early detection, early referral and early treatment are required. One of the ways to cure PID is a Bone Marrow Transplantation (BMT). “In 30% of patients, we can find a family donor, while in the other 70% of patients, we look at unrelated donor registries. BMT is a long process and requires supportive care,” she said. Of the nearly 1,500 paediatric BMTs done, 200 were for PIDs, she said.
