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Deficiency of Adenosine Deaminase 2
Deficiency of adenosine deaminase 2 (DADA2) is a monogenic vasculitis syndrome caused by biallelic mutations in the adenosine deaminase 2 gene. The diagnosis of DADA2 is confirmed by decreased enzymatic activity of ADA2 and genetic testing. Symptoms range from cutaneous vasculitis and polyarteritis nodosa-like lesions to stroke. The vasculopathy of DADA2 can affect many organ systems, including the gastrointestinal and renal systems. Hematologic manifestations occur early with hypogammaglobulinemia, lymphopenia, pure red cell aplasia, or pancytopenia. Treatment can be challenging. Tumor necrosis factor inhibitors are helpf...
Source: Rheumatic Disease Clinics of North America - August 1, 2023 Category: Rheumatology Authors: Andrew Grim, Keila R. Veiga, Nadine Saad Source Type: research

Deficiency of adenosine deaminase 2 (DADA2): Review
Best Pract Res Clin Rheumatol. 2023 Jun 15:101844. doi: 10.1016/j.berh.2023.101844. Online ahead of print.ABSTRACTThe deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease caused by loss-of-function (LOF) mutations in the ADA2 gene and was first described in 2014. Initially, it was described as vasculopathy/vasculitis that mostly affected infants and young children and closely resembled polyarteritis nodosa (PAN). Skin rash and ischemic/hemorrhagic stroke are predominant symptoms. However, the clinical spectrum of DADA2 has continued to expand since then. It has now been reported in adults as well. ...
Source: Cell Research - June 16, 2023 Category: Cytology Authors: Vikas Sharma Prateek Deo Aman Sharma Source Type: research

Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia
AbstractAdenosine deaminase 2 deficiency (DADA2), a rare and potentially fatal systemic autoinflammatory disease, is characterized by low or lack of ADA2 activity due toADA2 mutations. DADA2 symptoms are variable and include vasculitis, immunodeficiency, and cytopenia. Minimal data are available from Saudi Arabia. This retrospective study conducted at seven major tertiary medical centers examined the phenotypic and genotypic variabilities, clinical and diagnostic findings, and treatment outcomes among 20 Saudi patients with DADA2 from 14 families. The median age of the study cohort was 9.5  years (4–26 years). The clin...
Source: Journal of Clinical Immunology - October 14, 2022 Category: Allergy & Immunology Source Type: research

Large-vessel vasculitis in graft-versus-host disease: a case report
ConclusionThe life-threatening vascular complications associated with large-vessel vasculitis include arterial aneurysms and dissections, and ischemic or hemorrhagic stroke. Thus, this rare immunological association needs to be recognized and treated in a timely manner to prevent the long-term complications.
Source: Journal of Medical Case Reports - September 28, 2021 Category: General Medicine Source Type: research

Pentraxin 3 in Cardiovascular Disease
Giuseppe Ristagno1*, Francesca Fumagalli1, Barbara Bottazzi2, Alberto Mantovani2,3,4, Davide Olivari1, Deborah Novelli1 and Roberto Latini1 1Department of Cardiovascular Research, Mario Negri Institute for Pharmacological Research IRCCS, Milan, Italy 2Humanitas Clinical and Research Center-IRCCS, Milan, Italy 3Humanitas University, Milan, Italy 4The William Harvey Research Institute, Queen Mary University of London, London, United Kingdom The long pentraxin PTX3 is a member of the pentraxin family produced locally by stromal and myeloid cells in response to proinflammatory signals and microbial moieties. The p...
Source: Frontiers in Immunology - April 16, 2019 Category: Allergy & Immunology Source Type: research

Rapidly Progressive Intracranial Vasculopathy in Graft Versus Host Disease
We report a previously undescribed noninflammatory vasculopathy causing multifocal intracranial arterial occlusions and cerebral infarctions in a man following allogenic hematopoietic stem cell transplantation for chronic lymphocytic leukemia, which we propose to be a central nervous system manifestation of graft versus host disease.
Source: Journal of Stroke and Cerebrovascular Diseases - March 12, 2019 Category: Neurology Authors: Theodore Bowen, Shawn A. Silver, Cathy Sila Tags: Case Report Source Type: research

Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment
AbstractDeficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis syndrome. DADA2 is caused by biallelic hypomorphic mutations in theADA2 gene that encodes the adenosine deaminase 2 (ADA2) protein. Over 60 disease-associated mutations have been identified in all domains of ADA2 affecting the catalytic activity, protein dimerization, and secretion. Vasculopathy ranging from livedo reticularis to polyarteritis nodosa (PAN) and life-threatening ischemic and/or hemorrhagic stroke dominate the clinical features of DADA2. Vasculitis and inflammation can affect many organs, explaining the intestinal, hepa...
Source: Journal of Clinical Immunology - June 27, 2018 Category: Allergy & Immunology Source Type: research

DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients
This study provides a comprehensive evaluation of the clinical phenotype of DOCK8 deficiency in the largest cohort reported so far and demonstrates the severity of the disease with relatively poor prognosis. Early HSCT should be strongly considered as a potential curative measure.
Source: Journal of Clinical Immunology - January 28, 2015 Category: Allergy & Immunology Source Type: research