Understanding Inborn Errors of Immunity
Inborn Errors of Immunity, or IEI, are a heterogeneous group of inherited disorders of the immune system. They may present as increased susceptibility to infections, autoimmunity, auto-inflammation, or malignancy. These conditions are not restricted to the paediatric age group, as many IEIs have adult onset.
An immunologist is a specialist trained to diagnose these presumed rare diseases through specialised investigations and genetic tests to identify the underlying cause. Treatment is planned based on the pathophysiology driving the disease process — not on symptoms alone.
The Immunology OPD at KG Hospital is the first of its kind in Coimbatore and nearby towns, serving as a referral and diagnostic centre for immune-related disorders in both children and adults.
Conditions We Specialize In
Our Immunology OPD diagnoses and manages the following categories of Inborn Errors of Immunity, using a pathophysiology-driven treatment approach.
SCID is a paediatric emergency — infants present with severe, recurrent, and opportunistic infections and failure to thrive from the first months of life. CID covers a broader spectrum, sometimes presenting later and less severely, but still requiring urgent, specific diagnosis.
- SCID outcomes are strongly time-dependent — earlier diagnosis and transplant referral improve survival
- A child with recurrent, severe, or unusual infections in the first year of life warrants prompt immunological evaluation
These disorders present with cytopenias, lymphadenopathy or splenomegaly, early-onset multi-organ autoimmunity, and enteropathy — often before age 5, and often in more than one organ system at once.
Certain IEIs impair control of EBV infection, leading to persistent or recurrent mononucleosis-like illness, lymphadenopathy, hepatosplenomegaly, and risk of haemophagocytic lymphohistiocytosis (HLH) or lymphoma.
Defects in the cells that engulf and destroy bacteria and fungi lead to recurrent, often deep-seated bacterial and fungal infections — abscesses, pneumonia, and lymphadenitis are common presentations.
Some IEIs leave patients otherwise well but selectively vulnerable to specific pathogens — disseminated infection after BCG vaccination, severe measles after routine vaccination, recurrent herpes simplex encephalitis, or chronic mucocutaneous candidiasis.
Unlike autoimmune disease, autoinflammatory conditions are not driven by autoantibodies — they arise from dysregulation of the innate immune system, producing recurrent unexplained fevers, rash, and serositis.
Some IEIs, particularly those affecting DNA repair or immune surveillance, predispose to lymphoma, leukaemia, or other cancers — often at an unusually young age, at an unusual site, or clustering within a family.
Leading Signs That Need Evaluation
This table lists the very basic clinical features that should prompt an immunological evaluation of a patient.
| Leading Signs in Children | Leading Signs in Adults |
|---|---|
| Cytopenias | Bronchiectasis |
| >2 systemic infections | Cytopenias |
| Recurrent fever | Autoimmune diseases |
| Bronchiectasis | >3 Pneumonias |
Finding the So-Called "Rare Diseases"
Our mission is to identify and treat the so-called "rare diseases," as the term itself is a misnomer. Many of these diseases go unrecognized, unreported, and undiagnosed due to a lack of awareness among primary care providers.
Scope of Immunology Services
Diagnosis & Management of IEIs
Establishing dedicated facilities for the diagnosis and management of Inborn Errors of Immunity in Coimbatore.
Reducing Delays in Referral
Raising awareness to reduce delays in referral and diagnosis, so patients reach an immunologist sooner.
Training Clinicians & Paediatricians
Educating clinicians, pediatricians, and physicians through simple diagnostic algorithms for early recognition of suspected IEIs.
Flow Cytometry-Based Testing
Establishing state-of-the-art flow cytometry-based diagnostic facilities for IEIs, so samples from Coimbatore and across Tamil Nadu can be processed locally — reducing dependence on external labs and improving turnaround time (TAT).
Managing Cytokinemia with Small Molecules
Using small molecules to manage cytokinemia and cytokine storm, as seen in HLH, MAS, and Interferonopathies — including multiplex cytokine-profiling systems by flow cytometry, also useful in post-HSCT monitoring.
When Should You Seek an Immunology Consultation
Consult an immunologist if you or your child has any of the following:
