Orphanet: Recurrent infection due to specific granule deficiency

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Recurrent infection due to specific granule deficiency

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Neutrophil-specific granule deficiency
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D71
  • OMIM: 245480  617475
  • UMLS: -
  • MeSH: -
  • GARD: 10778
  • MedDRA: -
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