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fetal-onset familial lymphohistiocytosis

Wednesday 18 May 2011

Synopsis

- fetal hydrops
- intrauterine death

Etiology

- UNC13D germline mutations (Munc13-4) (MIM.608897)

  • familial hemophagocytic lymphohistiocytosis-3 (FHL3) (MIM.608898)

See also

- neonatal-onset familial hemophagocytic lymphohistiocytosis (neonatal-onset FHL)
- familial hemophagocytic lymphohistiocytosis (FHLs)

  • FHL1 / 9q21.3-q22 locus
  • FHL2 / PRF1
  • FHL3 / UNC13D
  • FHL4 / STX11
  • FHL5 / STXBP2

References

- Hemophagocytic lymphohistiocytosis in the premature neonate. Woods CW, Bradshaw WT, Woods AG. Adv Neonatal Care. 2009 Dec;9(6):265-73. Review. PMID: 20010142

- Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis. Vermeulen MJ, de Haas V, Mulder MF, Flohil C, Fetter WP, van de Kamp JM. Eur J Med Genet. 2009 Nov-Dec;52(6):417-20. PMID: 19595804

- Fulminant neonatal liver failure in siblings: probable congenital hemophagocytic lymphohistiocytosis. Stapp J, Wilkerson S, Stewart D, Coventry S, Mo JQ, Bove KE. Pediatr Dev Pathol. 2006 May-Jun;9(3):239-44. PMID: 16944969

- Hemophagocytic lymphohistiocytosis presenting with nonimmune hydrops fetalis. Malloy CA, Polinski C, Alkan S, Manera R, Challapalli M. J Perinatol. 2004;24:458-460.

- Fetal hemophagocytic lymphohistiocytosis in a premature infant. Nitta A, Suzumura H, Watabe Y, et al. J Pediatr. 2007;151:98.