Recurrent infection due to specific granule deficiency

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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 Data version May 2024

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Recurrent infection due to specific granule deficiency?

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