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]

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]

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]

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]

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]

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

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]

[…] 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]

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]

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]

[…] 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]

[…] 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]

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]