Background: Inborn errors of immunity IEI predispose patients to various infectious and non-infectious complications. Thanks to the development and expanding use of flow cytometry and increased awareness, the diagnostic rate of IEI has markedly increased in Algeria the last decade.
Aim: This study aimed to describe a large cohort of Algerian patients with probable IEI and to determine their clinical characteristics and outcomes. Methods: We collected and analyzed retrospectively the demographic data, clinical manifestations, immunologic, genetic data, and outcome of Algerian IEI patients - diagnosed in the department of medical immunology of Beni Messous university hospital center, Algiers, from to Results: Eight hundred and seven patients with IEI males and females were enrolled, 9.
Consanguinity was reported in The medium age at disease onset was 8 months and at diagnosis was 36 months. The median delay in diagnosis was 16 months. Combined immunodeficiencies were the most frequent Among patients tested for genetic disorders, patients carried pathogenic mutations; having biallelic variants mostly in a homozygous state autosomal recessive disorders. The highest mortality rate was observed in patients with combined immunodeficiency Some patients may also display autoimmunity, autoinflammation, allergy, or malignancy 1 , 2.
During the last decade, advances in understanding human genetics and immunity have led to a better recognition of several immune disorders and their underlying genetic defects. Inheritance of IEI can be X-linked, autosomal recessive AR , or autosomal dominant AD ; the first symptoms can manifest at birth, early childhood, or later in life.
Acquired forms of IEI resulting from somatic mutations or anti-cytokines autoantibodies are increasingly identified 4. The prevalence and incidence of IEI vary depending on the type of disorder, age, sex, ethnicity, and geographic location. At least 1 in 10, people are affected by IEI worldwide 1 , 2 , 5 , 6 , This number is probably underestimated due in part to the high and precocious mortality of patients before diagnosis, and to the lack of awareness and of dedicated diagnostic tools, leading to a low rate of diagnoses, particularly in developing countries.
