[…] 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]

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]

Abstract Purpose of review To present recent advances in the discovery and characterization of new immunodeficiency disorders linked to gain-of-function (GOF) mutations in immune signaling molecules. [doi.org]

Presentation The most common presenting feature is frequent infections. [patient.info]

• 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]

• Failure to Thrive

  Common gastrointestinal symptoms include diarrhoea, malabsorption and failure to thrive or losing weight. [patient.info]

• 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]

• 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]

  The boy with APDS 1 also had a history of gastrointestinal infections of both viral and bacterial etiology and hepatosplenomegaly. [aacijournal.biomedcentral.com]

  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]

  A CT thorax confirmed bronchiectasis, with evidence of pulmonary nodules, hepatosplenomegaly, liver nodules and scattered mediastinal lymphadenopathy. [academic.oup.com]

• Hepatomegaly

  Hepatomegaly and splenomegaly may be detected in the abdomen. In infants, crusting around the anus may be a sign of chronic diarrhoea. Delayed developmental milestones or ataxia may be evident. [patient.info]

  Current or chronic history of liver disease except where hepatomegaly is identified by their clinician to be secondary to APDS, or known hepatic or biliary abnormalities (with the exception of Gilbert's syndrome or asymptomatic gallstones). [clinicaltrials.gov]

  Physical examination demonstrated pallor of the skin, hypertrophic palatine tonsils (type 4 in Pirquet classification), hepatomegaly (the largest dimension was 13 cm) and splenomegaly (the largest dimension was 11 cm) (Table 1). [aacijournal.biomedcentral.com]

  Non-neoplastic lymphoproliferation including lymphadenopathy, splenomegaly, hepatomegaly with lymphoid aggregates in the respiratory and gastroenteric tract being a very frequent finding in APDS. [frontiersin.org]

• 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]

• 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]

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]

• 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]

  The autoimmune cytopenias have been found to be responsive to steroids, rituximab and splenectomy (4, 12). Rituximab therapy has been noted to be complicated by sustained B-cell lymphopenia (4). [frontiersin.org]

  Abnormalities in laboratory results include immune cytopenia and altered distribution of lymphocyte subpopulations [1, 5, 7, 8]. [aacijournal.biomedcentral.com]

• 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]

• 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]

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]

NCT02859727 - Phase 2 phase 3 - Interventional This study is designed to provide long-term CDZ173 treatment, a selective PI3Kδ inhibitor, to the patients with genetically activated PI3Kδ, i.e., patients with APDS/PASLI who participated in the CCDZ173X2201 [patientwing.com]

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]

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 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]

Lymphadenopathy, and Immunodeficiency 20 P110δ-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency 43 Activated Pi3k-Delta Immunodeficiency Syndrome 72 Activated Pi3k-Delta Syndrome; Apds 57 Characteristics: Orphanet epidemiological [malacards.org]

Activated PI3K delta syndrome Mutations/pathophysiology - disease: Immunodeficiency 14 aka Activated PI3K delta syndrome Mutations/pathophysiology - disease: p110 delta activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency [guidetopharmacology.org]

Today s modern diet More information Pathophysiology of Lipid Disorders Pathophysiology of Lipid Disorders Henry Ginsberg, M.D. [healthdocbox.com]

[…] of genetics, activated PI3K Delta Syndrome is autosomal dominant, a mutation in phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform is the reason for this condition (located at chromosome 1p36.) [2][3] Mechanism[edit] The pathophysiology [en.wikipedia.org]

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]

Normally, these cells recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. [elbiruniblogspotcom.blogspot.com]

Normally, these cells recognise and attack viruses and bacteria to prevent infection. [pharming.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]