fetal-onset familial lymphohistiocytosis

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.