Clinical, Immunological, and Genetic Features in Patients with Activated PI3K δ Syndrome (APDS): a Systematic Review

AbstractActivated phosphoinositide 3-kinase delta syndrome (APDS) is a novel primary immunodeficiency (PID) caused by heterozygous gain of function mutations in PI3K δ catalytic p110δ (PIK3CD) or regulatory p85 α (PIK3R1) subunits leading to APDS1 and APDS2, respectively. Patients with APDS present a spectrum of clinical manifestations, particularly recurrent respiratory infections and lymphoproliferation. We searched PubMed, Web of Science, and Scopus databases for APDS patients and screened for eligibility criteria. A total of 243 APDS patients were identified from 55 articles. For all patients, demographic, clinical, immunologic, and molecular data were collected. Overall, 179 APDS1 and 64 APDS2 patients were identified. The most common clinical manifestations were respiratory tract infections (pneumonia (43.6%), otitis media (28.8%), and sinusitis (25.9%)), lymphoproliferation (70.4%), autoimmunity (28%), enteropathy (26.7%), failure to thrive (20.6%), and malignancy (12.8%). The predominant immunologic phenotype was hyper-IgM syndrome (48.1%). Immunologic profiling showed decreased B cells in 74.8% and CD4+ T cells in 64.8% of APDS patients. The c.3061 G>A (p. E1021K) mutation in APDS1 with 85% frequency and c.1425+1 G> (A, C, T) (p.434 –475del) mutation in APDS2 with 79% frequency were hotspot mutations. The majority of APDS patients were placed on long-term immunoglobulin replacement therapy. Immunosuppressive agents such as rituximab, tac...
Source: Clinical Reviews in Allergy and Immunology - Category: Allergy & Immunology Source Type: research

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Authors: Rombauts A, Abelenda-Alonso G, Cuervo G, Gudiol C, Carratalà J Abstract INTRODUCTION: Despite adequate antibiotic coverage, community-acquired pneumonia (CAP) remains a leading cause of hospitalization and mortality worldwide. It induces both a local pulmonary and a systemic inflammatory response, particularly significant in severe cases. The intensity of the dysregulated host response varies from patient to patient and has a negative impact on survival and other outcomes. AREAS COVERED: This comprehensive review summarizes the pathophysiological aspects of the inflammatory response in CAP, brie...
Source: Expert Review of Anti-Infective Therapy - Category: Infectious Diseases Tags: Expert Rev Anti Infect Ther Source Type: research
CONCLUSION: This study found that childhood cancer survivors in New Zealand had a high prevalence of developmental dental abnormalities and it identified potential risk factors related to their cancer treatment. Inequitable access to oral rehabilitation for this patient group argues for a mechanism for consistent improved access to publicly funded dental care across district health boards in New Zealand. PMID: 33032302 [PubMed - in process]
Source: New Zealand Medical Journal - Category: General Medicine Tags: N Z Med J Source Type: research
Boosting the sensitivity of in vitroβ-lactam allergy diagnostic tests. Chem Commun (Camb). 2020 Oct 14;56(80):11973-11976 Authors: Peña-Mendizabal E, Morais S, Maquieira Á Abstract The synthesis of structurally new haptens and the development of suitable antigens are essential for boosting the sensitivity of drug allergy diagnostic testing. Unprecedented structural antigens for benzylpenicillin and amoxicillin are characterised and evaluated in a cohort of 70 subjects with a turnkey solution based on consumer electronics. PMID: 33033809 [PubMed - in process]
Source: Chemical Communications - Category: Chemistry Authors: Tags: Chem Commun (Camb) Source Type: research
CONCLUSIONS: Tacrolimus may be a safe and effective immunosuppressant for refractory or relapsing form of orbital or cranial IIPs. PMID: 33029975 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
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Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
ConclusionThe COMQ-12 could be a useful tool to differentiate chronic otitis media with or without cholesteatoma.
Source: European Archives of Oto-Rhino-Laryngology - Category: ENT & OMF Source Type: research
Authors: Tamai H, Shingaki N, Ida Y, Shimizu R, Maeshima S, Okamura J, Kawashima A, Nakao T, Hara T, Matsutani H, Nishikawa I, Higashi K Abstract BACKGROUND: Although clinical use of sofosbuvir plus ribavirin has been approved for patients infected with genotype 2 hepatitis C virus, patients ≥ 75-years-old have not been included in previous clinical trials. AIM: To evaluate the real-world safety and efficacy of sofosbuvir plus ribavirin for elderly patients (≥ 75-years-old) compared to nonelderly patients, we conducted a post-marketing prospective cohort study. METHODS: We treated 265 patients with ge...
Source: World Journal of Hepatology - Category: Gastroenterology Tags: World J Hepatol Source Type: research
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Source: World Journal of Hepatology - Category: Gastroenterology Tags: World J Hepatol Source Type: research
Authors: Singh G, Yoshida EM, Rathi S, Marquez V, Kim P, Erb SR, Salh BS Abstract Hepatocellular carcinoma (HCC) is the third leading cause of cancer-related deaths worldwide. If diagnosed early, curative treatment options such as surgical resection, loco-regional therapies, and liver transplantation are available to patients, increasing their chances of survival and improving their quality of life. Unfortunately, most patients are diagnosed with late stage HCC where only palliative treatment is available. Therefore, biomarkers which could detect HCC early with a high degree of sensitivity and specificity, may play...
Source: World Journal of Hepatology - Category: Gastroenterology Tags: World J Hepatol Source Type: research
Abstract BACKGROUND: Common variable immunodeficiency (CVID) is a heterogeneous group of disorders, characterized by recurrent upper and lower respiratory tract infections and some non-infectious clinical complications. OBJECTIVE: The current study aimed to provide a detailed evaluation of respiratory presentations and complications in a cohort of Iranian patients with CVID. METHODS: The present retrospective cohort study was conducted on 245 CVID patients who were recorded at the Iranian primary immunodeficiency disorders registry network. Respiratory manifestations were evaluated by reviewing clinical ...
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Tags: Ann Allergy Asthma Immunol Source Type: research
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