Experts say neonatal screening is crucial for early detection of primary immune deficiency.

Primary immunodeficiency (PI) disease causes great but often recognized health problems in India. These genetic conditions can damage the immune system and make individuals more susceptible to recurrent infections and other serious complications. Although precise statistics remain elusive due to extensive diagnostics and limited data collection, estimates suggest that More than one million Indians Possibly living with some form of PID.

Global, World Health Organization (WHO) and Study confirms more than 430 different PI-related diseasesthe impact is estimated to be 6 million people. Shockingly, as many as 90% of these cases remain undiagnosed. 2011 National Survey Records 1,240 registered PI patients, indicating a prevalence of 2.3 per 100,000 population, indicating a large number of reports.

According to experts, India has made significant progress in the field of PI care in recent years and has improved diagnostic abilities, clinical expertise and ability to obtain treatment. However, several barriers remain—including low awareness among health care providers and the public, insufficient diagnostic infrastructure, and limited access to treatment.

While there are no government programs specifically targeting major immunodeficiencies, broader initiatives prescribed National Health Mission (NHM), such as Universal Immunization Program (UIP)has made a significant contribution to managing the infectious threat that poses greater risks to PI individuals. in addition, National Rare Disease Policy (NPRD) Provide a financial lifeline by covering the cost of treatment for certain rare diseases, including select PIs.

Resolve the burden of primary immunodeficiency

According to Suchitra Sivadas, assistant professor in the Department of Pediatrics, Department of Clinical Hematology, Amrita Institute of Medical Sciences, believes that PI is a key health issue that requires targeted intervention, which is the first step to mitigate the associated risks.

Dr. Suchithra explains that PI is a set of genetic conditions caused by defects in the immune system that lead to an increased sensitivity to relapse and persistent infection. Diagnosing and managing PI conditions presents challenges, including a general lack of awareness, diverse and often subtle symptoms, frequent delays or misdiagnosis, and the limited availability of diagnostic tools often limited to professional centers.

PID can affect the entire body, and early detection is key

Logeshwari J., a consultant dermatologist at Narayana Health Mazumdar Shaw Medical Center in Bangalore, highlights the importance of early identification of potential indicators of potential PI, especially in a dermatological setting, as the skin is one of the first organs that often exhibit immunodeficiency.

Frequent ear and sinus infections, recurrent pneumonia attacks within one year, and infections that require extended antibiotic therapy can all point to potential immunodeficiencies. “Children who do not flourish or gain weight, as well as those who experience deep skin infections or abscesses, should also cause red flags,” she said.

Skin-related cues, such as persistent fungal infections, severe eczema and repeated oral thrush, may be critical in early PID testing. Likewise, frequent hospitalization should facilitate further research due to family history of infection and early death or similar symptoms. In addition, the family history of immunodeficiency can serve as a key clue to identifying high-risk populations. Early recognition of these signs is essential for the timely diagnosis and effective management of primary immunodeficiency.

Newborn Screening – Step 1

According to Shobha Badiger, pediatric plasma oncology and bone marrow transplantation, CAR T cell therapy, Mazumdar Shaw Medical Center, Narayana Health, Bengaluru, neonatal screening using T and B lymphocyte populations – identify and calculate blood tests for various lymphocythe (all of which are lymphocyse blood). These lymphocytes, including B cells, CD4+ T cells (helping T cells), CD8+ T cells (cytotoxic T cells), and natural killer (NK) cells, play a crucial role in the immune system.

This test helps evaluate immune function, diagnose immune deficit disease, and monitor the effectiveness of treatments, such as HIV or therapeutic diseases after transplantation and T-REC analysis – T cell receptor (TREC) measurements are circular DNA fragments released in Thymus during T cell receptor (TCR) gene rearrangement. These TRECs are stable and can be detected in dry blood spots (Guthrie cards), making them a useful marker for evaluating thymic function and T cell development, and can detect nearly 80% of the PI risk even before symptoms appear.

“If we can use these tests to screen newborns, we can capture most cases before the child has symptoms. This will vary in terms of outcomes and treatment costs,” she said.

She also stressed that families with a history of PI or a frequent unexplained disease should be provided as early as weeks 9-11 of pregnancy. “We can genetically test the fetus and consult the family about the next step of litigation. If the baby is affected, they can prepare for early treatment, or, if they choose to do so, consider termination.”

Another preventive option is through IVF preimplantation genetic diagnosis (PGD), allowing families at high risk to ensure that children are born without disease.

Lack of awareness among the public and healthcare professionals

A key gap in awareness about PI exists between the public and medical community.

Dr. Shobha stressed that healthcare professionals may ignore immune deficiencies due to vague symptoms such as skin and ENT infections. She stressed the importance of detecting potential immune system problems in newborns before routine vaccination. “Some newborns may be at risk of hidden immune system problems. If they receive certain vaccines, such as BCG, they can lead to serious complications before identifying these problems. Raising awareness of this possibility can help doctors and families make informed decisions and make necessary precautions,” she said.

She also noted that better coordination among departments is crucial in neonatal care, especially when not immediately participating in PI experts to prevent vaccines before identifying potential immunity issues.