Combined immunodeficiency due to GINS1 deficiency
Synonyms: CID due to GINS1 deficiency | Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia | Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia
A rare syndrome with combined immunodeficiency characterized by intrauterine and postnatal growth retardation chronic neutropenia and natural killer (NK) cell deficiency due a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema as well as mild facial dysmorphism.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Combined immunodeficiency due to GINS1 deficiency?
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Advocacy Organizations
Accessia Health Foundation
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.
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.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.