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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DiscussionOur case series illustrates the difficulty in managing patients with anaphylaxis to replacement therapy. In the era of novel therapies, such as emicizumab, the management of HA patients who experience anaphylaxis to replacement therapy is becoming easier and may obviate the need for ITI. Current treatment strategies for HB patients with such anaphylaxis, however, are limited to rFVIIa, and it continues to pose a challenge.
Source: Blood Cells, Molecules, and Diseases - Category: Hematology Source Type: research
Publication date: Available online 20 October 2019Source: Best Practice &Research Clinical HaematologyAuthor(s): Richard J. JonesAbstractClose HLA matching of donors and recipients has been the dogma for successful allogeneic blood or marrow transplantation (BMT), to limit the complications of graft rejection and graft-versus-host disease (GVHD). However, many patients in need, especially those in certain racial and ethnic groups such as African-Americans and Hispanics, are unable to find matches despite increased availability of unrelated donors. Unfortunately, despite many early attempts to develop safe, related hapl...
Source: Best Practice and Research Clinical Haematology - Category: Hematology Source Type: research
The Food Allergy Research and Education wants to make Halloween inclusive for kids with food allergies, who may feel excluded because many Halloween foods are on their no-no list.
Source: WebMD Health - Category: Consumer Health News Source Type: news
Condition:   Transplant; Decision-making Interventions:   Other: Total Survival;   Other: Stratified Transplant Survival Sponsor:   Carnegie Mellon University Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Authors: Liu W, Zang X Abstract The co-stimulation and co-inhibition signal pathways, immune checkpoints, are among the central mechanisms to regulate the T-cell immunity. Optimal signals involve intricate interactions of numerous ligands and receptors. Manipulation of these signals offers great clinical opportunities and has revolutionized the cancer treatment therapies. The 2018 Nobel Prize in Physiology or Medicine was awarded to James P. Allison and Tasuku Honjo in recognition of their discovery of cancer immunotherapy by inhibition of immune checkpoint molecules. Despite the landmark discovery in cancer immuno...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
Fecal transplants -- in which stool from a donor is processed and then transplanted into a patient's gut -- are meant to repopulate the gut with a healthier range of microorganisms, NBC News reported.
Source: WebMD Health - Category: Consumer Health News Source Type: news
MONDAY, Oct. 21, 2019 -- Intrauterine growth restriction protects against allergic diseases, according to a review published online Oct. 12 in the Journal of Allergy and Clinical Immunology. Amy L. Wooldridge, Ph.D., from University of Adelaide in...
Source: Drugs.com - Pharma News - Category: Pharmaceuticals Source Type: news
During the 25 years I ’ve been a transplant doctor, I’ve cared for hundreds of patients who received lung transplants. I’m now worried about the growing number of people who will need this lifesaving procedure in the future but who won’t have enough transplant physicians to do it. At any given time in the U.S., a bout 120,000 […]Find jobs at  Careers by KevinMD.com.  Search thousands of physician, PA, NP, and CRNA jobs now.  Learn more.
Source: Kevin, M.D. - Medical Weblog - Category: General Medicine Authors: Tags: Physician Surgery Source Type: blogs
The stem cells responsible for maintaining muscle tissue decline in function with age, becoming ever less active. This loss of function contributes to sarcopenia, the characteristic decline in muscle mass and strength that takes place with advancing age. Researchers here report on investigations of the role of adipogenic progenitor cells in the decline of muscle stem cell function. These progenitor cells are a necessary part of the muscle stem cell niche, but their behavior changes for the worse with advancing age, disrupting the balance of intracellular signaling needed for stem cell function. Declining stem cell...
Source: Fight Aging! - Category: Research Authors: Tags: Daily News Source Type: blogs
(Natural News) Additive manufacturing systems have come one step closer to printing out whole, working organs for emergency medical transplants. Researchers reported 3D printing a complete system of blood vessels found on a major organ. Every day, around 20 patients who desperately need an organ transplant die before ever getting one. There are not enough...
Source: NaturalNews.com - Category: Consumer Health News Source Type: news
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