Presentation
[…] syndrome due to p110delta-activating mutation Prevalence: Inheritance: Autosomal dominant Age of onset: Infancy, Childhood, Adult ICD-10: D81.8 OMIM: 615513 616005 UMLS: C3714976 MeSH: - GARD: 11983 MedDRA: - The documents contained in this web site are presented [orpha.net]
Acronym APDS Synonyms Activated PI3K-delta immunodeficiency syndrome IMD14 Immunodeficiency 14 p110-delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency PASLI Any medical or genetic information present in this entry [uniprot.org]
APDS and APDS-2 affected individuals present with similar symptoms, which include increased susceptibility to airway infections, bronchiectasis and lymphoproliferation. [en.wikipedia.org]
A broad differential diagnosis must be considered in a patient presenting with an adult-onset eczematous eruption, including allergic contact dermatitis, mycosis fungoides/cutaneous T-cell lymphoma, psoriasis, scabies, and so forth. [medworm.com]
Entire Body System
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Lymphadenopathy
ORPHA:397596 Synonym(s): APDS Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation Prevalence: Inheritance: Autosomal dominant Age of onset: Infancy, Childhood, Adult ICD-10: D81.8 OMIM: 615513 616005 UMLS: [orpha.net]
Overactivation of PI3K-delta signaling can also stimulate abnormal proliferation of white blood cells, leading to lymphadenopathy and nodular lymphoid hyperplasia in some affected individuals. [elbiruniblogspotcom.blogspot.com]
Furthermore, overproduction of said signal can cause lymphadenopathy (which is an enlargement of lymph nodes) due to excess white blood cells. [en.wikipedia.org]
While lymphadenopathy and nodular lymphoid hyperplasia are noncancerous (benign), activated PI3K-delta syndrome also increases the risk of developing a form of cancer called B-cell lymphoma. [ghr.nlm.nih.gov]
Acronym APDS Synonyms Activated PI3K-delta immunodeficiency syndrome IMD14 Immunodeficiency 14 p110-delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency PASLI Any medical or genetic information present in this entry [uniprot.org]
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Recurrent Respiratory Infections
Definition A disorder characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, reduced immunoglobulin G2 levels in serum, and impaired vaccine responses [uniprot.org]
Description Activated PI3K-delta syndrome (APDS) is a primary immunodeficiency characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, and reduced [genome.jp]
PI3K disease is characterized by recurrent respiratory infections that can lead to progressive airway damage. People with PI3K disease have too few of some types of immune cells and too many of others. [niaid.nih.gov]
The phenotype of activated PI3K- δ syndrome (APDS) includes recurrent respiratory infections, severe viral infections, autoimmunity, lymphoproliferation/lymphoma and neurodevelopmental problems, accompanied by variable lymphopenia with increased circulating [medworm.com]
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Recurrent Bacterial Infection
People with activated PI3K-delta syndrome typically have recurrent bacterial infections of the respiratory tract and chronic viral infections. [ghr.nlm.nih.gov]
The development of severe, persistent recurrent bacterial infection is a better indicator. A common scenario is repeated episodes of sore throat or upper respiratory tract infection which lead to sinusitis, chronic otitis and bronchitis. [patient.info]
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Increased Susceptibility to Infections
This overactivation launches a chain reaction leading to disruptions in the normal development of B and T cells, which play a key role in fighting pathogens, and to increased susceptibility to infection. [niaid.nih.gov]
Introduction Primary immunodeficiencies (PIDs) are a group of disorders that cause immune dysfunction and manifest with increased susceptibility to infections. Many PIDs are monogenic diseases. [frontiersin.org]
Respiratoric
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Aspiration
In the majority of patients, only a very few KIT D816V mast cells (MC) or MC precursors, if any, are found in peripheral blood (PB) and bone marrow (BM) aspirates. In contrast, the MC count in BM biopsies is typically much higher. [medworm.com]
Retrospective analysis of aspiration risk and genetic predisposition in bronchiectasis patients with and without non-tuberculous mycobacteria infection. Am J Respir Crit Care Med. 2003. 163:A763. National Institutes of Health. [emedicine.medscape.com]
Gastrointestinal
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Failure to Thrive
Common gastrointestinal symptoms include diarrhoea, malabsorption and failure to thrive or losing weight. [patient.info]
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Chronic Diarrhea
Since his APDS diagnosis, he has been stably managed on immunomodulatory agents, and has not subsequently experienced an abscess, deep-seated infection, osteomyelitis, chronic diarrhea, fungal infection, or most importantly, a malignancy. [journal.frontiersin.org]
Liver, Gall & Pancreas
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Hepatosplenomegaly
[…] immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lympadenopathy, hepatosplenomegaly [orpha.net]
This effectively reduced hepatosplenomegaly and lymphadenopathy, most likely by restoring the normal balance of naïve, effector, and memory cells in the patients’ immune system. [en.wikipedia.org]
Skin
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Eczema
When hypereosinophilia is associated with eosinophil-mediated organ damage or dysfunction, a hypereosinophilic syndrome (HES) exists.With an unpredictable course, eosinophilic infiltration commonly affects the skin (eczema), lung (dyspnea), &GIT (gastritis [medworm.com]
Various skin manifestations may be apparent, such as rashes, vesicles, pyoderma, eczema and telangectasia. The eyes may be inflamed and infected. [patient.info]
Inoue Y, Shimojo N Seminars in immunopathology 37(1) 57-64 2014年10月 [査読有り] Maternal intake of Natto, a Japan's traditional fermented soybean food, during pregnancy and the risk of eczema in Japanese babies. [researchmap.jp]
[…] type 2 atelosteogenesis type 3 atelosteogenesis type I, see atelosteogenesis type 1 atelosteogenesis type III, see atelosteogenesis type 3 atelosteogenesis, type 2, see atelosteogenesis type 2 ATM, see ataxia-telangiectasia atopic dermatitis atopic eczema [mygenomics.com]
Psychiatrical
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Impulsivity
In this syndrome, atrial impulse conducts to the HEART VENTRICLES via an accessory pathway located between the wall of the right or left atria and the ventricles, known as the bundle of Kent. [bioportfolio.com]
Workup
This review will specifically address the diagnosis, workup, and ma... Allergan (NYSE: AGN) has removed its textured breast implants from the market in Europe following a recall request from French regulators. [medworm.com]
The girl’s initial workup showed high levels of white blood cells called lymphocytes, which were hardly expected in someone with a weakened immune system. [novartis.com]
Serum
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Cytopenia
[…] infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lympadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias [orpha.net]
People also have lymphoproliferation (large lymph nodes and spleen), chronic viremia due to EBV or CMV, distinctive lymphoid nodules at mucosal surfaces, autoimmune cytopenias, and EBV-driven B cell lymphoma. [en.wikipedia.org]
Complications of transplant for nonmalignant disorders: autoimmune cytopenias, opportunistic infections, and PTLD. Biol Blood Marrow Transplant. 2012 Jan; 18(1 Suppl):S101-10. PMID: 22226092. [profiles.ucsf.edu]
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Lymphocytes Increased
[…] activated PI3K- δ syndrome (APDS) includes recurrent respiratory infections, severe viral infections, autoimmunity, lymphoproliferation/lymphoma and neurodevelopmental problems, accompanied by variable lymphopenia with increased circulating transitional B lymphocytes [medworm.com]
PR Interval
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Short PR Interval
Medical and Biotech [MESH] Definitions Wolff-parkinson-white Syndrome A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. [bioportfolio.com]
Treatment
Talmadge King, Harold Collard, and Luca Richeldi, bring you up to date with increased understanding, new treatment protocols, and recent advances in the field. [books.google.com]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Summary This is a multi-center, non-randomised, open-label, uncontrolled, single group study to investigate the safety and pharmacokinetics (PK) during 84 days repeat dosing treatment with 1000 micrograms (mcg) of inhaled GSK2269557 in addition to standard [bioportfolio.com]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
Prognosis
Some conditions such as selective IgAD have a good prognosis. [patient.info]
Bronchiectasis, a study of prognosis based on a follow-up of 400 patients. Am Rev Tuber. 1941. 40:53. Ellis DA, Thornley PE, Wightman AJ, Walker M, Chalmers J, Crofton JW. [emedicine.medscape.com]
Activation of this pathway also predicts poor prognosis in numerous human malignancies. Drugs targeting this signaling pathway have been developed and have shown preliminary clinical activity. [biomarkerres.biomedcentral.com]
Melanoma, conserved biosystem (from KEGG) Melanoma, conserved biosystem Melanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. [ncbi.nlm.nih.gov]
Etiology
But its etiology rema... PI3Kβ - a versatile transducer for GPCR, RTK and small GTPase signaling. The phosphoinositide 3-kinase (PI3K) family includes 8 distinct catalytic subunits and seven regulatory subunits. [bioportfolio.com]
Approximately 1 in 1200 people in the United States are currently diagnosed with PIDs, with more than 200 diseases and more than 100 genetic etiologies uncovered. [stm.sciencemag.org]
[…] pathophysiology are not well understood, many experts favor a model of CPPS as a heterogeneous condition, with multiple potentially overlapping etiologies existing along a spectrum. [journals.plos.org]
Knowing the genetic etiology of APDS afforded us the opportunity to explore PI3Kδ inhibition as a precision-medicine therapy. Here, we report in vitro and in vivo effects of inhibiting PI3Kδ in APDS. [bloodjournal.org]
While otitis media and sinusitis are common in children, recurrence and pneumonia are less so and as in this case they should prompt etiological investigation. [journal.frontiersin.org]
Epidemiology
EPIDEMIOLOGY AND DISEASE BURDEN 3.6. EPIDEMIOLOGY FORECAST 3.6.1. FORECAST METHODOLOGY AND ASSUMPTION 3.6.2. PROBABILISTIC EPIDEMIOLOGY FORECAST 4. MARKET OVERVIEW 4.1. GOVERNMENT REGULATORY DYNAMICS AND IMPACT 4.2. PRICING AND REIMBURSEMENT 4.3. [gii.co.jp]
[…] syndromes associated with immunodeficiency: a wide range of inherited immunodeficiency conditions has been identified, many involving a single gene. [ 14 ] Secondary immunodeficiencies There are many possible causes and so it is difficult to obtain exact epidemiological [patient.info]
Sunami S, Nakamura R, Teshima R, Sato Y, Kohno Y Leukemia & lymphoma 55(1) 92-96 2014年1月 [査読有り] Hino M, Shimojo N, Ochiai H, Inoue Y, Ando K, Chikaraishi K, Ota S, Okimoto Y, Sunami S, Nakamura R, Teshima R, Sato Y, Kohno Y, Leukemia & lymphoma, 2013 Epidemiology [researchmap.jp]
Results from a prospective, international, epidemiologic study of invasive candidiasis in children and neonates. Pediatr Infect Dis J. 2012 Dec; 31(12):1252-7. PMID: 22982980. [profiles.ucsf.edu]
Pathophysiology
The pathophysiology of activated PI3K delta syndrome has several aspects. [en.wikipedia.org]
Today s modern diet More information Pathophysiology of Lipid Disorders Pathophysiology of Lipid Disorders Henry Ginsberg, M.D. [healthdocbox.com]
CPPS has been estimated to account for nearly two million annual physician visits, [5] and its impact on quality of life is similar to or greater than angina, congestive heart failure, Crohn’s disease, and diabetes mellitus. [6] While the etiology and pathophysiology [journals.plos.org]
Clinical, pathophysiologic, and microbiologic characterization of bronchiectasis in an aging cohort. Chest. 1995 Oct. 108(4):955-61. [Medline]. Seitz AE, Olivier KN, Steiner CA, et al. [emedicine.medscape.com]
Prevention
Methods to determine the condition are the following: Genetic testing Laboratory findings Symptoms exhibited Infections for this condition, are treated or prevented in the following general ways: Bacterial infection should be treated rapidly(with antibiotics [en.wikipedia.org]
Normally, these cells recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. [elbiruniblogspotcom.blogspot.com]
Prevention (primary) Prevention of primary immunodeficiency depends on the identification and genetic counselling of likely carriers in families with a positive history. X-linked disorders may be excluded by sex determination. [patient.info]
Cardiology & Sports Medicine University Clinic of Cardiology Optimal Diet for Prevention of Coronary Heart Disease Diet More information Berries and Cardiovascular Health Berries and Cardiovascular Health Britt Burton-Freeman, PhD Institute for Food [healthdocbox.com]