Wikipedysta:Kpjas/HLH: Różnice pomiędzy wersjami
Usunięta treść Dodana treść
mNie podano opisu zmian |
→Badania genetyczne: spolszczenie parametrów angielskich szablonów cytowania |
||
Linia 70:
Molecular genetic testing for four of the causative genes, PRF1 (FHL2), UNC13D (FHL3), STX11 (FHL4), and STXBP2 (FHL5), is available on a clinical basis. Symptoms of FHL are usually evident within the first few months of life and may even develop ''in utero''. However, symptomatic presentation throughout childhood and even into young adulthood has been observed in some cases.
The five subtypes of FHL<ref name=NBK1444>{{
* FHL1: ''[[HPLH1]]''
Linia 78:
* FHL5: ''[[STXBP2]]'' ([[Syntaxin binding protein 2]])/UNC18-2
Nearly half of the cases of type 2 familial hemophagocytic lymphohistiocytosis are due to bi-allelic PRF1 mutations.<ref name=Trapani2013>{{
=== Badania laboratoryjne ===
|