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Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
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Genetics and pathophysiology of haemophagocytic lymphohistiocytosis

Marie Meeths1,2, Yenan T Bryceson3,4,5

  • 1Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

Acta Paediatrica (Oslo, Norway : 1992)
|June 30, 2021
PubMed

Haemophagocytic lymphohistiocytosis (HLH) represents a life-threatening hyperinflammatory syndrome. Familial studies have established autosomal and X-linked recessive causes of HLH, highlighting a pivotal role for lymphocyte cytotoxicity in the control of certain virus infections and immunoregulation. Recently, a more complex etiological framework has emerged, linking HLH predisposition to variants in genes required for metabolism or immunity to intracellular pathogens. We review genetic predisposition to HLH and discuss how molecular insights have provided fundamental knowledge of the immune system as well as detailed pathophysiological understanding of hyperinflammatory diseases, highlighting new treatment strategies.

Keywords:
haemophagocytic lymphohistiocytosishyperinflammationimmune dysregulationinborn errors of immunitymacrophage activation syndrome

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