Table 1.

Genetic causes of hemophagocytic lymphohistiocytosis (HLH).

AR indicates autosomal recessive; X, X-linked. 
HLH related to defects in the perforin/granule-mediated pathway of cytotoxicity

  • FHL 2 – Perforin (PRF1) AR

  • FHL 3 – MUNC 13–4 AR

  • FHL4 – STX11 AR

  • Griscelli s. type 2 – Rab27A AR

  • Chediak Higashi s. – LYST1 AR

  • Hermansky Pudlak s. type II - AP3B1 AR

 
X-linked syndromes associated with HLH

  • XLP1 – SH2D1A (SAP) X

  • XLP2 – BIRC4 (XIAP) X

 
AR indicates autosomal recessive; X, X-linked. 
HLH related to defects in the perforin/granule-mediated pathway of cytotoxicity

  • FHL 2 – Perforin (PRF1) AR

  • FHL 3 – MUNC 13–4 AR

  • FHL4 – STX11 AR

  • Griscelli s. type 2 – Rab27A AR

  • Chediak Higashi s. – LYST1 AR

  • Hermansky Pudlak s. type II - AP3B1 AR

 
X-linked syndromes associated with HLH

  • XLP1 – SH2D1A (SAP) X

  • XLP2 – BIRC4 (XIAP) X

 
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