. DEFECTS OF ADAPTIVE IMMUNITY .

Neutropenia, Syndromic panel [21 genes]

Severe congenital neutropenias are rare paediatric haematological disorders characterized by germline mutations that lead to maturation arrest of granulocytes in the bone marrow. Affected children have an increased risk of infections and leukemic progression. Syndromic conditions present with hematopoietic or extra-hematopoietic manifestations, and affected tissues or organs include the heart (G6PC3 and TAZ), urogenital system (G6PC3), bones and exocrine pancreas (Shwachman-Diamond syndrome), skin (LAMTOR2), and liver (glycogen storage; SLC37A4), among others.

Clinical features

  • Infections, disseminated, recurrent
  • Poor wound healing
  • Extra-hematopoietic manifestations
  • Onset: infancy

Prevalence

  • Rare

Service benefits and management

  • Accurate diagnosis & prognosis
  • Complications management
  • Targeted treatment
  • Prophylactic antibacterials
  • G-CSF therapy
  • Hematopoietic stem cell transplantation (HSCT)

AP3B1, AP3D1, CLPB, DNAJC21, G6PC3, GATA1, GATA2, GINS1, HYOU1, JAGN1, LAMTOR2, LYST, PGM3, SBDS, SLC37A4, SMARCD2, TAZ, USB1, VPS13B, VPS45, WDR1

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