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Activated PI3K-delta syndrome in an Egyptian pediatric cohort with primary immune deficiency.

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BACKGROUND Activated Phospho-Inositide 3 (PI3) Kinases Delta syndrome (APDS) can underlie primary immune deficiency. The prevalence and phenotypic characterization of these patients are not well described in Egypt. OBJECTIVES To… Click to show full abstract

BACKGROUND Activated Phospho-Inositide 3 (PI3) Kinases Delta syndrome (APDS) can underlie primary immune deficiency. The prevalence and phenotypic characterization of these patients are not well described in Egypt. OBJECTIVES To describe patients with APDS in hospitalized children with recurrent respiratory tract infections with suspected primary immune deficiency. METHODS 79 patients were included in the study. E1021K and E525K mutations of PI3K δ chain gene were screened by Sanger sequencing technique. RESULTS one patient was heterozygous to E1021K mutation; a female child was diagnosed clinically as Combined Immune Deficiency with CD4 and B lymphopenia and markedly deficient IgG and increased IgM. The E525K mutation was not detected in our cohort. CONCLUSIONS Screening for APDS in patients with recurrent respiratory tract infections with undefined antibody deficiency or combined immune deficiency with or without bronchiectasis is required. These patients need great attention to benefit from the available treatment. Further studies on the Egyptian population are recommended to increase the knowledge about the prevalence and phenotypic characterization of this disease in Egypt.

Keywords: delta syndrome; cohort; primary immune; immune deficiency; activated pi3k; deficiency

Journal Title: Allergologia et immunopathologia
Year Published: 2020

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