primary immunodeficiency disorders in infants attending Minia University Hospital

Maher, Sheren Esam; Elsayed Abuelela, Mostafa Ahmed; Mohamed, Nageh Shehata; Mohamed, Saeed Ahmed

doi:10.21608/mjmr.2024.250035.1552

primary immunodeficiency disorders in infants attending Minia University Hospital

Document Type : Original Article

Authors

¹ Department of Pediatrics, Faculty of Medicine, Minia University, El-Minia, Egypt

² clinical pathology , faculty of medicine , minia university

10.21608/mjmr.2024.250035.1552

Abstract

Introduction: Primary immunodeficiency diseases (PID) are a group of disorders of the immune system. (PIDs) are genetically inherited diseases characterized by an increased susceptibility to infections, autoimmunity, lymphoproliferation, and malignancies. PIDs are under-diagnosed, and the registered cases and prevalence are below the estimated numbers, especially in countries with high consanguinity rates. Early diagnosis leads to better outcomes and lower costs because of earlier initiation of appropriate treatment.

Objective: To identify the prevalence of various types of primary immunodeficiency disorders in infants at Minia university hospitals

Patients and methods: This study included 40 cases from age 0-2 years diagnosed as Primary Immunodeficiency attending to the Pediatric Rheumatology and immunology out-patient clinic and admitted to inpatient ward in Minya University Children

Results: The median age of onset was 13 months, the median age at diagnosis was 11 months, and the median diagnosis lag was 5 months among 40 cases, including 27 (67.5%) male and 13 (32.5%) women. The male-to-female ratio was 2:1. Results revealed that PIDs is common between consanguineous parents (70%) with positive history of sibling died (40%) and history of sibling diagnosed as PID (8%). The most common type was Predominantly antibody deficiencies (PAD) 17 (42.5%) patients with least dominant Disorder of immune dysregulation 1 (2.5%) patient. The most common presentation was recurrent pneumonia (52.5%). The mortality rate was 12.5%.

Conclusion: PID cases are present and under-diagnosed in Minia governorate, due to lack of awareness with these cases, history of sibling death were additional significant warning signs in our community.

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