SPECTRUM OF PRIMARY IMMUNODEFICIENCY DISORDERS IN CHILDREN IN KASHMIR

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Primary immunodeficiency disorders (PIDs) are a genetically heterogeneous group of disorders that affect distinct components of the innate and adaptive immune system. To date, more than 300 different PIDs have been identified, most of these manifesting by 1 year of life. Recognition of these disorders by the clinician is important because appropriate therapy will not only prevent death but also reduce the long-term morbidity from recurrent infections. There is often under diagnosis of these conditions or a delay in the diagnosis of treatable conditions. Delay in the diagnosis of PID disorders is not only evident in undeveloped or developing countries, but is also reported in developed countries. On the other hand, early diagnosis and easy access to care and treatment play key roles in improving the survival, quality of life, and prognosis of patients with these disorders. Evaluation of immune function should be initiated for children with clinical manifestations for a specific immune disorder or with unusual, chronic, or recurrent infections such as systemic bacterial infections, serious respiratory bacterial infections, liver or brain abscesses, infections with unusual pathogens, and infections with common childhood pathogens but of unusual severity. No study regarding the pattern of diseases, clinical profile, complications and outcomes of primary immunodeficiency diseases has been done in Kashmir, which is geographically, socially, culturally, and ethnically a unique population. This study will through some light on the spectrum of primary immunodeficiency Disorders (PID) in this part of the world and help policy makers to set up an ideal platform for the management of these comparatively ignored but important diseases. Aims And Objectives: To study the clinical profile, disease complications and short-term outcomes of patients over a period of two years with Suspected primary immunodeficiency Disorders (PID) to ascertain the association of immunoglobulin levels and CD counts with PID. Materials And Methods: This Prospective observational study was conducted in the Department of Pediatrics, Government Medical College, Srinagar. A detailed history was taken from each patients attendant after confirming the reliability of the attendant (ideally mother or father) with special reference to the presence/ absence of manifestation of Primary immunodeficiency disorders. A thorough clinical examination was done after obtaining written informed consent from all patients for their inclusion in the study. In this study, 30 patients ,0-18 years of age, who met the inclusion criteria were included.: The duration of the study was two years and three months starting from September 2020-December 2022 (The first 3 months for patient recruitment). Data was compiled using Microsoft 2016 Excel spreadsheet and analyzed by IBMSPSS V.23. Descriptive statistics was computed to describe the sociodemographic characteristics of participants and to summarize the distribution of each of the dependent (outcome) and independent variables. Results: In this study, 30 patients with suspected Primary immunodeficiency disorders (PIDs) were recruited for three months and each patient was followed for two years as per study protocol. About 47% of the patients were products of 3rd degree consanguineous marriage, 33.3% of patients had a family history of Primary immunodeficiency disorders and 6.7% had received blood transfusions presently or in the past.Serum immunoglobulins profile was deranged in more than half of the patients. IgM was seen to be low in 60% of the patients, IgG and IgA were low in 36.7 % of the patients and IgE was high in 26% of the patients with suspected primary immunodeficiency disorder. CD4 and CD19 counts were seen to be low in 20% of patients and 16.7% of patients reported low CD8 count. Other diagnostic tests like Broncho-alveolar lavage (BAL) showed growth in 3.3% of patients, WAS protein was low in 16.7 % of the patients.The association of CD4 Counts was found to be statistically significant with p value <0.002 by Fishers Exact test. Patients with low CD4 count had 83.3% mortality as compared to those having normal counts. There was a strong association seen in patients with low CD8 counts with mortality among PID patients and p valve was highly significant (p valve <0.0005).