Spectrum of primary immune deficiency at a tertiary care hospital
Sumit Verma1, Pradeep Kumar Sharma, Sindhu Sivanandan
1Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
Insights
This study identified 27 children with primary immune deficiencies, including chronic granulomatous disease and severe combined immunodeficiency, highlighting the need for increased diagnostic suspicion in India.
Area of Science:
- Pediatric Immunology
- Clinical Genetics
- Infectious Diseases
Background:
- Primary immune deficiencies (PIDs) are a group of rare genetic disorders affecting the immune system.
- Early diagnosis and management are crucial for improving outcomes in children with PIDs.
- Tertiary care hospitals play a vital role in diagnosing and managing complex pediatric cases.
Purpose of the Study:
- To document the types of primary immune deficiencies diagnosed in children at a tertiary care hospital.
- To describe the clinical presentations and laboratory findings of these PIDs.
- To emphasize the importance of early recognition and diagnosis of PIDs in India.
Main Methods:
- A retrospective review of medical records of children diagnosed with PIDs over a 24-month period.
- Inclusion criteria: children diagnosed with any primary immunodeficiency disorder.
- Data collected included diagnosis, age, sex, clinical manifestations, and laboratory profiles.
Main Results:
- Twenty-seven children were diagnosed with PIDs (M:F ratio 3.5:1), with a mean age of 5.4 years.
- The most common PIDs were chronic granulomatous disease (13 cases) and severe combined immunodeficiency (4 cases).
- Recurrent pneumonia (19 cases) and recurrent diarrhea (10 cases) were the most frequent clinical presentations.
Conclusions:
- A significant number of primary immune deficiencies can be identified through chart review at a single tertiary care center.
- A high index of suspicion is necessary for diagnosing PIDs in the Indian context.
- Establishing a national registry is recommended to ascertain the true prevalence and burden of these disorders in India.
Objective:
To report various primary immune deficiencies diagnosed in children at a tertiary care hospital, their clinical manifestations and laboratory profile.
Methods:
Case records of children diagnosed to have primary immunodeficiency disorders over a period of 24 months at a tertiary care hospital in northern India were evaluated.
Results:
Twenty-seven children (M: F=3.5: 1) with mean age of 5.4 +/- 4.6 yrs (2 mo-16 yr) were diagnosed to have primary immunodeficiency. Thirteen children had chronic granulomatous disease (CGD), 4 had severe combined immunodeficiency (SCID), 4 had hypogammaglobulinemia, 2 had Ataxia telangiectasia, and one each had DiGeorge syndrome, Wiskott Aldrich syndrome, hyper IgM syndrome and leukocyte adhesion defect. Common mode of presentation were recurrent/ persistent pneumonia in 19, recurrent/ persistent diarrhea in 10, deep seated abscesses in 8, allergy in 3, disseminated tuberculosis infection in 2, extensive fungal infections in 2 and 1 each of disseminated cytomegalovirus (CMV) infection, disseminated BCG disease, otitis media and meningitis. Family history of sibling deaths was elicited in 2 families. Infectious agents were isolated in 16 cases.
Conclusion:
From a single center 27 patients with primary immune deficiency could be identified by chart review, suggesting need for high index of suspicion for diagnosis of primary immune deficiency in India. Though the exact prevalence is not known there is need to make a registry to document the magnitude of problem of these disorders.
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