. DEFECTS OF ADAPTIVE IMMUNITY .

Phagocyte Defects, Congenital panel [44 genes]

Clinical conditions resulting from phagocyte defects can result from low numbers or impaired function of innate immune cells such as neutrophils, monocytes, macrophages, and dendritic cells. This category includes genes involved in cell development processes, such as proliferation and differentiation, and involved in cell function and motility processes, such as granule production and chemotaxis.

Clinical features

  • Infections, disseminated, recurrent
  • Poor wound healing
  • Susceptibility to myelodisplasia, leukemia, neutropenia
  • Onset: infancy

Prevalence

  • Rare
  • ~10% of all PIDs

Service benefits and management

  • Accurate diagnosis & prognosis
  • Complications management
  • Targeted treatment
  • Prophylactic antibacterials
  • Immunomodulators
  • Hematopoietic stem cell transplantation (HSCT)

ACTB, AP3B1, AP3D1, CEBPE, CLPB, CSF2RA, CSF2RB, CSF3R, CTSC, CYBA, CYBB, DNAJC21, ELANE, FERMT3, FPR1, G6PC3, G6PD, GATA1, GATA2, GFI1, GINS1, HAX1, HYOU1, ITGB2, JAGN1, LAMTOR2, LYST, MKL1, NCF1, NCF2, NCF4, NOD2, PGM3, RAC2, SBDS, SLC35C1, SLC37A4, SMARCD2, TAZ, USB1, VPS13B, VPS45, WAS, WDR1

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