Primary Immunodeficiency Disorders Among North Indian Children
| Autor: | Supreet Kumar Mohanty, Rakesh Lodha, Devika Gupta, Narendra Kumar Bagri, Dipendra Kumar Mitra, Sushil K. Kabra, Sushmita Chakraborty, Rinkee Kumari, Prabin Kumar, Deepshi Thakral |
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| Rok vydání: | 2019 |
| Předmět: |
Male
Hyper IgM syndrome Pediatrics medicine.medical_specialty Adolescent Primary Immunodeficiency Diseases Immunoglobulins India X-linked agammaglobulinemia Consanguinity 03 medical and health sciences 0302 clinical medicine 030225 pediatrics medicine Humans Family history Child Respiratory Tract Infections Retrospective Studies Respiratory tract infections business.industry Common variable immunodeficiency Immunologic Deficiency Syndromes Retrospective cohort study Flow Cytometry medicine.disease Child Preschool Pediatrics Perinatology and Child Health Failure to thrive Primary immunodeficiency Female medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | The Indian Journal of Pediatrics. 86:885-891 |
| ISSN: | 0973-7693 0019-5456 |
| Popis: | To report the distribution pattern of various categories of primary immunodeficiency disorders (PIDs) in children from North India, frequency of warning signs and critical parameters for evaluation. In this retrospective study, 528 children below 18 y of age after clinical assessment and presentation suggestive of PID were further screened by immunophenotyping for immune cell markers by flow cytometry. A total of 120 (23%) children were diagnosed with PID with median age at diagnosis being 2.5 y in males and 3.5 y in females and an average delay in diagnosis from onset of symptoms being approximately 5 y. Chronic lower respiratory tract infections, gastrointestinal symptoms like persistent diarrhea and failure to thrive were amongst the most common warning signs in these patients. PIDs were classified according to the International Union of Immunological Societies’ (IUIS) criteria. The diagnosis of index study subjects included combined humoral and cellular immunodeficiency (29%), phagocytic defects (29%), followed by predominantly antibody deficiency (18%), innate immunity and dysregulation (17%) and other well-defined syndromes (7%). A family history of PID (23%), consanguineous marriage (8%) and previous sibling death (23%) were observed as major clinical predictors/clues for underlying PID. All children received prophylactic antibiotics and/or antifungals in addition to specific therapy for underlying immune deficiency. The field of PIDs in India remains largely unexplored and we are faced with various challenges in the diagnosis of PIDs due to lack of awareness as well as absence of equipped immunological laboratory support. The authors propose a methodical step-wise laboratory diagnostic approach that can facilitate early diagnosis and timely intervention of these mis/underdiagnosed disorders. |
| Databáze: | OpenAIRE |
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