Amish, Mennonite, and Hutterite
Genetic Disorder Database

Hemophagocytic lymphohistiocytosis, familial, 2

Disorder
OMIM #: #603553  (Click to access OMIM database)
Disorder: Hemophagocytic lymphohistiocytosis, familial, 2  
Also known as: FHL2, HPLH2, HLH2  
Clinical
Phenotype: fever, splenomegaly,bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia,hyperferritinemia, elevated soluble CD25 levels, decreased or absence of natural killer cell ctivity and hemophagocytosis in bone marrow, spleen, lymph nodes or other tissues 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Old Order Mennonite, Unknown / Other Mennonite  
Gene: PRF1
Base Change: G>A , at nucleotide 1122
Amino Acid Change: trp 374 --> term
Last updated: 2018-04-19 

References
Balta G, Okur HBalta, et al.. (2010) Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation. Leukemia Research 1012–1017 .
PubMed ID: 20197201 

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