Slovenski nacionalni register bolnikov s primarno imunsko pomanjkljivostjo

Blazina, Štefan; Markelj, Gašper; Debeljak, Maruša; Jeverica, Anja Koren; Toplak, Nataša; Bratanič, Nevenka; Pokorn, Marko; Kopač, Peter; Pečnik, Andreja Pikelj; Košnik, Mitja; Jazbec, Janez; Kuhar, Marijana; Ihan, Alojz; Avčin, Tadej

doi:10.6016/zdravvestn.1321

Cited by 1 publication

(1 citation statement)

References 6 publications

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“…In this study, we reported mortality rate of 32.7%, with severe infections as the most leading causes of death. Overall, the mortality of our cohort is comparable to the findings of neighboring countries such as Morocco ( 31 ) and Tunisia ( 27 ), but it is much higher than to what was reported in European countries ( 38 , 43 , 45 – 47 , 69 – 72 ) and Asian countries and regions ( 73 – 75 ) ( Figure 7 ). Furthermore, Combined immunodeficiency is the category with the highest mortality rate (70.1%) which is very close to what was found in Kuwait 69% ( 29 ).…”

Section: Discussionsupporting

confidence: 81%

Inborn Errors of Immunity in Algerian Children and Adults: A Single-Center Experience Over a Period of 13 Years (2008–2021)

Belaid

Mahammed

Drali³

et al. 2022

Front. Immunol.

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BackgroundInborn 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.AimThis study aimed to describe a large cohort of Algerian patients with probable IEI and to determine their clinical characteristics and outcomes.MethodsWe 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 2008 to 2021.ResultsEight hundred and seven patients with IEI (482 males and 325 females) were enrolled, 9.7% of whom were adults. Consanguinity was reported in 50.3% of the cases and a positive family history in 32.34%. 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 (33.8%), followed by antibody deficiencies (24.5%) and well-defined syndromes with immunodeficiency (24%). Among 287 patients tested for genetic disorders, 129 patients carried pathogenic mutations; 102 having biallelic variants mostly in a homozygous state (autosomal recessive disorders). The highest mortality rate was observed in patients with combined immunodeficiency (70.1%), especially in patients with severe combined immunodeficiency (SCID), Omenn syndrome, or Major Histocompatibility Complex (MHC) class II deficiency.ConclusionThe spectrum of IEI in Algeria is similar to that seen in most countries of the Middle East and North Africa (MENA) region, notably regarding the frequency of autosomal recessive and/or combined immunodeficiencies.

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