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Activated PI3K-delta syndrome in an Egyptian pediatric cohort with primary immune deficiency
Alshymaa A Ahmed1, Alia A El Shahaway2, Sameh A Hussien3
1Clinical Pathology Department, Faculty of Medicine, Zagazig University, Zagazig City, Al Sharqia Governorate, Egypt.
Insights
Activated Phospho-Inositide 3 (PI3) Kinases Delta syndrome (APDS) is a primary immune deficiency. A study in Egypt identified one case of APDS in a child with recurrent respiratory infections, highlighting the need for increased awareness and further research.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Activated Phospho-Inositide 3 (PI3) Kinases Delta syndrome (APDS) is an underlying cause of primary immune deficiency.
- The prevalence and characteristics of APDS patients are poorly understood in Egypt.
Purpose of the Study:
- To describe patients diagnosed with APDS among hospitalized children presenting with recurrent respiratory tract infections and suspected primary immune deficiency.
Main Methods:
- Sanger sequencing was employed to screen for E1021K and E525K mutations in the PI3K delta chain gene.
- The study included 79 pediatric patients.
Main Results:
- One patient, a female child, was found to be heterozygous for the E1021K mutation.
- This patient exhibited clinical features of Combined Immune Deficiency, including CD4 and B lymphopenia, significantly low IgG, and elevated IgM.
- The E525K mutation was not detected in the study cohort.
Conclusions:
- Screening for APDS is recommended in children with recurrent respiratory tract infections, undefined antibody deficiency, or combined immune deficiency, with or without bronchiectasis.
- Early diagnosis and management are crucial for these patients to benefit from available treatments.
- Further research in the Egyptian population is necessary to elucidate the prevalence and phenotypic spectrum of APDS.
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.
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