الفهرس 
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Abstract
Primary immunodeficiency illnesses (PID) encompass a diverse array of conditions affecting the functionality of the immune system. The prevalent manifestations often observed encompass severe recurring infections, neoplasms, atopy, and autoimmune disorders, which are associated with a considerable death rate, particularly among individuals diagnosed with severe combined immunodeficiency.
The primary objective of this study was to determine the incidence of different forms of primary immunodeficiency disorders among newborns receiving care at Minia University Hospitals. Specifically, the study aimed to investigate the characteristic features, clinical manifestations, and laboratory profiles associated with these disorders.
The present study comprised a sample of 40 children who had received a diagnosis of Primary immunodeficiency. The present investigation constituted a prospective cross-sectional study comprising a sample of 40 cases ranging in age from 0 to 6 years who were diagnosed with Primary Immunodeficiency. These cases were selected from individuals seeking care at the Pediatric Rheumatology and Immunology outpatient clinic and were also admitted to the inpatient ward at Minya University Children tertiary referral Hospital. The study was conducted over a period spanning from September 2021 to September 2022.
The primary findings of the study indicated that the study sample consisted of 27 male participants and 13 female participants, resulting in a male-to-female ratio of 2:1.
In terms of the prevalence of primary immunodeficiency disorders, the most frequently observed type was predominantly antibody deficiencies, which were present in 42.5% of patients. This was followed by immunodeficiencies affecting cellular and humoral immunity, which accounted for 22.5% of cases. Additionally, 17.5% of patients exhibited combined immunodeficiency with associated or syndromic features. Congenital anomalies pertaining to the quantity or functionality of phagocytes have been seen to exhibit a reduction of 7.5%. Additionally, impairments in both intrinsic and innate immunity have been found to decrease by 5%. The prevalence of diseases characterized by immunological dysregulation and complement deficits was observed to be 2.5% within the examined population.
The predominant diagnosis observed in the patient cohort under investigation was Common Variable Immunodeficiency (CVID), accounting for 22.5% of cases. Subsequently, Severe Combined Immunodeficiency (SCID) was identified in 20% of patients, while Hyper IgE Syndrome was present in 12.5% of cases. X-linked agammaglobulinemia, Agammaglobulinemia, and chronic Granulomatous Disease (CGD) were each found in 7.5% of the patients included in the study.
The predominant manifestation observed in the study was pneumonia, accounting for 52.5% of cases. Gastroenteritis was the second most often encountered presentation, comprising 17.5% of cases. Septicemia and fever were reported in 10% of cases.
The predominant warning sign among the ten identified was the requirement for intravenous antibiotics to resolve infections, as reported by 85% of the participants under study. This was closely followed by the occurrence of two or more instances of pneumonia during a one-year period, which was observed in 60% of the individuals in our cohort. Additionally, almost 30% of the subjects exhibited inadequate weight gain and stunted growth in infancy.
The death rate seen among the patients under study, particularly those diagnosed with sepsis and pneumonia, was found to be 12.5%.