Hemophagocytic Lymphohistiocytosis (HLH) panel [29 genes]

Familial hemophagocytic lymphohistiocytosis is a life-threatening inflammatory syndrome characterized by histiocytosis, low or absent NK cell activity, and an excess of released cytokines. The severity and progression of untreated disease leads to a median survival of less than two months, with the majority of deaths caused by uncontrolled invasive infections. There is a predisposition to suffer EBV infections, but other viral or bacterial infections can also occur. Clinical diagnostic criteria are confirmed by genetic testing, which explain approximately 45% of HLH patients, whereas 55% of the cases could be categorized as sporadic HLH with a complex origin.

Clinical features

  • Histiocytosis
  • Low or absent NK, cytopenia
  • Lymphadenopathy
  • Cytokine production dysregulation
  • Prolonged fever
  • Predisposition to EBV infections

Prevalence

  • 1:50,000

Service benefits and management

  • Immunosuppressive therapy
  • Genetic counselling
  • Accurate diagnosis and phenotype-genotype correlation

AP3B1, AP3D1, CARMIL2, CD27, CD70, CTPS1, FAAP24, FADD, FAS, FASLG, ITK, LYST, MAGT1, MCM4, MYO5A, NLRC4, PRF1, PRKCD, RAB27A, RASGRP1, RECQL4, SH2D1A, SLC7A7, STAT1, STAT2, STX11, STXBP2, UNC13D, XIAP

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