CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation immunodeficiency and neutrophil dysfunction as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain high fever and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed tongue submandibular and gluteal abscesses intra-abdominal granulomas pyoderma gangrenosum and buccal ulcerations. Frequent episodes of purulent paronychia superficial skin and mucosal infections and purulent upper respiratory tract infections have also been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome?
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Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
Accessia Health pioneered the patient assistance model for people living with chronic medical conditions. We provide financial assistance to pay for prescriptions, medical treatments and expenses, travel and insurance premiums. Our program services include healthcare education, specialized legal services, and case management. We’re leveraging our three decades of our entrepreneurial spirit to expand patient assistance support to serve today’s healthcare consumers. Serving diverse populations is our #1 goal and we seek partners who share our belief that all people deserve to have access to healthcare. Over $1.1 billion has been distributed to patients throughout the country, helping them navigate their way through the complexities of the healthcare system. You can help us do even more.
Autoimmune Registry Inc.
Autoimmune Registry, Inc., ARI, is a 501(c)(3) non-profit umbrella organization that provides a hub for research, statistics, and patient data on all autoimmune diseases. Since 2016 we have operated a database for patients who suffer from any autoimmune disease. Our mission is to reduce the time of diagnosis, support research, compute prevalence statistics, and establish autoimmune disease as a major class of disease so that it receives the awareness of the public, the attention of healthcare providers, and the appropriate funding needed to improve upon existing treatment protocols and disease management strategies.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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