Recurrent infection due to specific granule deficiency

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Recurrent infection due to specific granule deficiency

Synonyms: Neutrophil-specific granule deficiency

A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections especially of the skin ears lung and lymph nodes with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity paucity of neutrophil granulocytes and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay mild facial dysmorphic features (such as dysplastic ears) and anomalies of bones teeth and nails.

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: // Data version October 2023.

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Advocacy Organizations

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

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.

Clinical Trials

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