The First Iranian Cohort of Pediatric Patients With Activated Phosphoinositide 3-Kinase-Δ (Pi3kδ) Syndrome (Apds)

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The First Iranian Cohort of Pediatric Patients With Activated Phosphoinositide 3-Kinase-Δ (Pi3kδ) Syndrome (Apds) Publisher Pubmed

Fekrvand S¹ ; Delavari S¹ ; Chavoshzadeh Z² ; Sherkat R³ ; Mahdaviani SA⁴ ; Sadeghi Shabestari M⁵ ; Azizi G⁶ ; Arzanian MT⁷ ; Shahin Shamsian B⁷ ; Eskandarzadeh S² ; Eslami N² ; Rae W^{8, 9} ; Condinoneto A¹⁰ ; Mohammadi J¹¹ Show All Authors

Fekrvand S¹
Delavari S¹
Chavoshzadeh Z²
Sherkat R³
Mahdaviani SA⁴
Sadeghi Shabestari M⁵
Azizi G⁶
Arzanian MT⁷
Shahin Shamsian B⁷
Eskandarzadeh S²
Eslami N²
Rae W^{8, 9}
Condinoneto A¹⁰
Mohammadi J¹¹
Abolhassani H^{12, 13}
Yazdani R^{1, 14}
Aghamohammadi A¹

Show Affiliations

1. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran
2. Pediatric Infections Research Center, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3. Acquired Immunodeficiency Research Center, lsfahan University of Medical Sciences, Isfahan, Iran
4. Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
5. Children Hospital of Tabriz, Immunology Research Center of Tabriz, TB and Lung Research Center of Tabriz, Tabriz University of Medical Science, Tabriz, Iran
6. Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
7. Pediatric Hematologist-Oncologist, Congenital Hematological Disorders Research Center, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
8. Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, United Kingdom
9. Department of Medicine, University of Cambridge, School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, United Kingdom
10. Department of Immunology, Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, Brazil
11. Department of Biomedical Engineering, Faculty of New Sciences and Technologies, University of Tehran, Tehran, Iran
12. Research Center for Primary Immunodeficiencies, Iran University of Medical Science, Tehran, Iran
13. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden
14. Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran

Source: Immunological Investigations Published:2022

Abstract

Background: Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently defined combined primary immunodeficiency disease (PID) characterized by recurrent respiratory tract infections, lymphoproliferation, autoimmunity and lymphoma. Gain-of-function mutations in PIK3CD and loss-of-function of PIK3R1 genes lead to APDS1 and APDS2, respectively. Methods: Demographic, clinical, immunological and genetic data were collected from medical records of 15 pediatric patients, who were genetically identified using the whole-exome sequencing method. Results: Fifteen patients (6 APDS1 and 9 APDS2) were enrolled in this study. Recurrent respiratory tract infections followed by lymphoproliferation and autoimmunity were the most common manifestations (86.7%, 53.3% and 26.7%, respectively). Five patients (33.3%) had a Hyper-IgM-syndrome-like immunoglobulin profile. In the APDS1 group, splice site and missense mutations were found in half of the patients and the C-lobe domain of PIK3CD was the most affected region (50%). In the APDS2 group, splice site mutation was the most frequent mutation (77.8%) and the inter-SH2 domain was the most affected region of PIK3R1 (66.7%). Mortality rate was significantly higher in APDS2 group (P = .02) mainly due to chronic lung infections. Conclusion: Respiratory tract infections and humoral immunodeficiency are commonly the most important complication in pediatric APDS patients, and they can be fatal by ultimately causing catastrophic damage to the structure of lungs. Hence, physicians should be aware of its significance and further work-up of patients with recurrent respiratory tract infections especially in patients with lymphoproliferation. Moreover, delineation of genotype-phenotype associations with disease severity could be helpful in the timely application of appropriate management and patients’ survival. © 2021 Taylor & Francis Group, LLC.

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Style	Citing Format
MLA	Fekrvand S, et al.. "The First Iranian Cohort of Pediatric Patients With Activated Phosphoinositide 3-Kinase-Δ (Pi3kδ) Syndrome (Apds)." Immunological Investigations, vol. 51, no. 3, 2022, pp. 644-659.
APA	Fekrvand S, Delavari S, Chavoshzadeh Z, Sherkat R, Mahdaviani SA, Sadeghi Shabestari M, Azizi G, Arzanian MT, Shahin Shamsian B, Eskandarzadeh S, Eslami N, Rae W, Condinoneto A, Mohammadi J, Abolhassani H, Yazdani R, Aghamohammadi A (2022). The First Iranian Cohort of Pediatric Patients With Activated Phosphoinositide 3-Kinase-Δ (Pi3kδ) Syndrome (Apds). Immunological Investigations, 51(3), 644-659.
Chicago	Fekrvand S, Delavari S, Chavoshzadeh Z, Sherkat R, Mahdaviani SA, Sadeghi Shabestari M, Azizi G, et al.. "The First Iranian Cohort of Pediatric Patients With Activated Phosphoinositide 3-Kinase-Δ (Pi3kδ) Syndrome (Apds)." Immunological Investigations 51, no. 3 (2022): 644-659.
Harvard	Fekrvand S et al. (2022) 'The First Iranian Cohort of Pediatric Patients With Activated Phosphoinositide 3-Kinase-Δ (Pi3kδ) Syndrome (Apds)', Immunological Investigations, 51(3), pp. 644-659.
Vancouver	Fekrvand S, Delavari S, Chavoshzadeh Z, Sherkat R, Mahdaviani SA, Sadeghi Shabestari M, et al.. The First Iranian Cohort of Pediatric Patients With Activated Phosphoinositide 3-Kinase-Δ (Pi3kδ) Syndrome (Apds). Immunological Investigations. 2022;51(3):644-659.
BibTex	@article{ author = {Fekrvand S and Delavari S and Chavoshzadeh Z and Sherkat R and Mahdaviani SA and Sadeghi Shabestari M and Azizi G and Arzanian MT and Shahin Shamsian B and Eskandarzadeh S and Eslami N and Rae W and Condinoneto A and Mohammadi J and Abolhassani H and Yazdani R and Aghamohammadi A}, title = {The First Iranian Cohort of Pediatric Patients With Activated Phosphoinositide 3-Kinase-Δ (Pi3kδ) Syndrome (Apds)}, journal = {Immunological Investigations}, volume = {51}, number = {3}, pages = {644-659}, year = {2022} }
RIS	TY - JOUR AU - Fekrvand S AU - Delavari S AU - Chavoshzadeh Z AU - Sherkat R AU - Mahdaviani SA AU - Sadeghi Shabestari M AU - Azizi G AU - Arzanian MT AU - Shahin Shamsian B AU - Eskandarzadeh S AU - Eslami N AU - Rae W AU - Condinoneto A AU - Mohammadi J AU - Abolhassani H AU - Yazdani R AU - Aghamohammadi A TI - The First Iranian Cohort of Pediatric Patients With Activated Phosphoinositide 3-Kinase-Δ (Pi3kδ) Syndrome (Apds) JO - Immunological Investigations VL - 51 IS - 3 SP - 644 EP - 659 PY - 2022 ER -

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