Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

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Synonyms: SCN4 | Severe congenital neutropenia type 4 | Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare genetic primary immunodeficiency disorder characterized by increased susceptibility to recurrent life-threatening bacterial infections in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (e.g. atrial septal defects patent ductus arteriosus,valvular defects) urogenital anomalies (incl. cryptorchidism) growth and developmental delay facial dysmorphism (e.g. frontal bossing upturned nose malar hypoplasia) and intermittent thrombocytopenia are frequently associated.

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 Data version June 2024

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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.

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.

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Clinical Trials

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