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, 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. Autosomal recessive |
| 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: | 2022-11-05 |
| References |
|---|
| Balta G, Okur H, Unal S, Yarali N, Gunes AM, Unal S, Turker M, Guler E, Ertem M, Albayrak M, Patiroglu T, Gurgey A. (2010) Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation. Leuk Res Aug;34(8):1012-7. PubMed ID: 20197201 |
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