Major Immunodeficiency (PI) issues pose a considerable, but continuously under-recognised well being concern in India. These genetic circumstances impair the immune system, making people extra weak to recurrent infections and different severe problems. Whereas exact statistics stay elusive attributable to widespread under-diagnosis and restricted knowledge assortment, estimates recommend that over one million Indians could also be dwelling with some type of PID.
Globally, the World Well being Group (WHO) and studies acknowledge over 430 distinct PI associated disorders, affecting an estimated six million individuals. Alarmingly, as much as 90% of those instances stay undiagnosed. A 2011 nationwide survey documented 1,240 registered PI sufferers, suggesting a prevalence fee of two.3 per 100,000 inhabitants — a sign of great under-reporting.
In line with specialists, lately, India has made notable progress within the discipline of PI care, with enhancements in diagnostic capabilities, scientific experience, and entry to remedy. Nevertheless, a number of hurdles persist — together with low consciousness amongst healthcare suppliers and most people, inadequate diagnostic infrastructure, and restricted remedy accessibility.
Though there isn’t a devoted authorities programme completely concentrating on major immunodeficiencies, broader initiatives below the National Health Mission (NHM), such as the Universal Immunisation Programme (UIP), contribute considerably to managing the infectious threats that pose better dangers to people with PI. Moreover, the National Policy for Rare Diseases (NPRD) gives a monetary lifeline by masking the remedy prices of sure uncommon issues, together with choose PIs.
Addressing the burden of major immunodeficiency
In line with Suchitra Sivadas, assistant professor, paediatrics, Division of Medical Hematology, Amrita Institute of Medical Sciences, Kochi, recognising PI as a crucial well being problem requiring focused intervention is step one towards mitigating related dangers.
Dr. Suchithra defined that PI being a gaggle of inherited circumstances brought on by immune glitches, they result in elevated susceptibility to recurrent and chronic infections. Diagnosing and managing PI circumstances poses challenges, together with a common lack of know-how, various and infrequently delicate signs, frequent delays or misdiagnoses, and restricted availability of diagnostic instruments usually confined to specialised facilities.
PID impacts entire physique, early detection is vital
Logeshwari J., guide dermatologist, Mazumdar shaw Medical centre, Narayana Well being, Bengaluru, emphasised the significance of recognising potential indicators of PI early, particularly in dermatological settings, because the pores and skin is one among the many first organs the place immune deficiencies typically manifest.
Frequent ear and sinus infections, recurrent pneumonia episodes inside a yr, and infections that require extended courses of antibiotics can all level to underlying immunodeficiency. “Youngsters who fail to thrive or acquire weight, in addition to these experiencing recurrent deep pores and skin infections or abscesses, must also increase pink flags”, she stated.
Pores and skin-related clues, comparable to persistent fungal infections, extreme eczema, and recurrent oral thrush, will be crucial in early PID detection. Additionally, frequent hospitalisations attributable to infections and a household historical past of early deaths or comparable signs ought to immediate additional investigation. Moreover, a household historical past of immunodeficiency can function a crucial clue in figuring out at-risk people. Recognising these signs early is crucial for timely diagnosis and efficient administration of major immunodeficiencies.
New child screening – step one
In line with Shobha Badiger, senior guide, paediatric haemato-oncology and bone marrow transplantation, CAR T cell remedy, Mazumdar Shaw Medical Centre, Narayana Well being, Bengaluru, new child screening utilizing T and B lymphocyte subset evaluation — a blood take a look at that identifies and counts varied forms of lymphocytes (a kind of white blood cell) is now obtainable. These lymphocytes, together with B cells, CD4+ T cells (helper T cells), CD8+ T cells (cytotoxic T cells), and pure killer (NK) cells, play essential roles within the immune system.
The take a look at helps assess immune operate, diagnose immunodeficiency ailments, and monitor the effectiveness of therapies, comparable to these for HIV or after transplantation and T-REC evaluation — the measurement of T-cell receptor excision circles (TRECs), that are round DNA fragments launched throughout T cell receptor (TCR) gene rearrangement within the thymus. These TRECs are steady and will be detected in dried blood spots (Guthrie playing cards), making them a helpful marker for assessing thymic operate and T cell growth, and might detect almost 80% of PI dangers even earlier than signs seem.
“If we are able to screen newborns utilizing these exams, we are able to catch most instances earlier than the kid turns into symptomatic. That makes all of the distinction in each consequence and price of remedy,” she stated.
She additionally careworn that households with a historical past of PI or recurrent unexplained diseases needs to be supplied prenatal screening as early because the ninth–eleventh week of being pregnant. “We are able to do a genetic take a look at on the foetus and counsel the household concerning the subsequent steps. If the infant is affected, they will both put together for early remedy or, in the event that they select to take action, think about termination.”
One other preventive choice, pre-implantation genetic analysis (PGD) by way of IVF, permits households at excessive threat to make sure that a baby is born with out the illness.
Lack of understanding among the many public and healthcare professionals
A crucial hole in awareness exists amongst each the general public and medical neighborhood concerning PI.
Dr. Shobha highlighted that healthcare professionals might overlook immunodeficiency attributable to obscure signs, comparable to pores and skin and ENT infections. She careworn the significance of detecting potential immune system points in newborns earlier than routine vaccinations. “Some newborns is likely to be in danger for hidden immune system points. In the event that they obtain sure vaccines, like BCG, earlier than these points are recognized, it may well result in extreme problems. Elevating consciousness about this chance will help docs and households make knowledgeable selections and take vital precautions,” she stated.
She additionally notes that higher coordination amongst departments is essential in new child care, significantly when PI specialists usually are not instantly concerned, to forestall conditions the place vaccines are administered earlier than potential immune points are recognized.
Revealed – April 19, 2025 12:03 pm IST
