Pune, June 26: Doctors at Manipal Hospital Baner diagnosed a rare genetic immune disorder in a 39-year-old man after he suffered two severe episodes of pneumonia within a year. This indicated an underlying genetic condition responsible for his recurring infections. The patient had been experiencing repeated respiratory infections despite having no history of diabetes or any other known condition that could explain his weakened immunity. While the pneumonia episodes were successfully treated, the recurrence prompted doctors to investigate further.
Initial blood tests showed unusually low levels of two important antibodies Immunoglobulin M (IgM) and Immunoglobulin A (IgA), which help the body fight infections. However, the reason behind the deficiency remained unclear.
Speaking about the case, Dr Nagesh Dhadge, HOD and Consultant, Pulmonology, Manipal Hospital Baner, Pune, said,
“As the patient had developed pneumonia twice within a short span despite having no obvious risk factors, we felt there could be an underlying issue affecting his immune system. To investigate further, we recommended Whole Exome Sequencing (WES), an advanced genetic test that helps identify hidden changes in a person’s DNA. The test revealed a rare alteration in the TRAF3 gene, which plays an important role in the body’s immune defence. This finding gave us a clearer understanding of why he was experiencing recurrent lung infections despite being otherwise healthy. In many such cases, routine investigations may not provide all the answers, and genetic testing can help uncover conditions that might otherwise go undetected.”
He further added,
“The diagnosis has changed the way we approach the patient’s treatment. Instead of simply treating infections whenever they occur, we can now focus on preventing future episodes through close monitoring and specialised care. Cases like these highlights how advances in genetic testing are helping doctors identify conditions that might otherwise remain undiagnosed for years.”
Dr. Abhijit Giram, Consultant Haematologist and BMT Physician, Manipal Hospital Baner, Pune, said,
“In this case, recurrent episodes of pneumonia served as an important clue to an underlying problem with the patient’s immune system. The genetic diagnosis helped us understand the root cause of his repeated infections and plan the most appropriate long-term treatment. Such conditions can often remain unnoticed until patients develop severe or recurrent infections. Depending on the patient’s clinical condition and immune status, treatment options may include immunoglobulin therapy to reduce the risk of infections. In certain cases, a bone marrow transplant may also be considered as a potential curative treatment.”
Following the diagnosis, doctors have planned regular monitoring of the patient’s lung health and immune system. Genetic counselling has also been advised, as the condition may run in families. The patient is currently doing well and remains under regular follow-up. The diagnosis has provided valuable insight into the cause of his recurrent infections and has helped doctors take proactive steps to prevent future complications through timely intervention and ongoing care.