Spectrum of primary immune deficiency at a tertiary care hospital

• Published in: Indian journal of pediatrics 2008-02, Vol.75 (2), p.143-148
• Main Authors: Verma, Sumit, Sharma, Pradeep Kumar, Sivanandan, Sindhu, Rana, Nidhi, Saini, Savita, Lodha, Rakesh, Kabra, S. K.
• Format: Article
• Language: English
• Subjects: Adolescent; Agammaglobulinemia - diagnosis; Agammaglobulinemia - epidemiology; Ataxia Telangiectasia - diagnosis; Ataxia Telangiectasia - epidemiology; Biological and medical sciences; Child; Child, Preschool; DiGeorge Syndrome - diagnosis; DiGeorge Syndrome - epidemiology; Female; General aspects; Granulomatous Disease, Chronic - diagnosis; Granulomatous Disease, Chronic - epidemiology; Gynecology; Hematologic and hematopoietic diseases; Hospitals, Teaching - statistics & numerical data; Humans; Hyper-IgM Immunodeficiency Syndrome - diagnosis; Hyper-IgM Immunodeficiency Syndrome - epidemiology; Immunodeficiencies; Immunodeficiencies. Immunoglobulinopathies; Immunologic Deficiency Syndromes - diagnosis; Immunologic Deficiency Syndromes - epidemiology; Immunopathology; India - epidemiology; Infant; Leukocyte-Adhesion Deficiency Syndrome - diagnosis; Leukocyte-Adhesion Deficiency Syndrome - epidemiology; Male; Medical Records; Medical sciences; Medicine; Medicine & Public Health; Original Article; Other diseases. Hematologic involvement in other diseases; Pediatrics; Retrospective Studies; Wiskott-Aldrich Syndrome - diagnosis; Wiskott-Aldrich Syndrome - epidemiology
• ISSN: 0019-5456; 0973-7693
• DOI: 10.1007/s12098-008-0022-9

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 (2mo-16yr) 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.