Wikipedysta:Kpjas/HLH: Różnice pomiędzy wersjami

Dodane 12 bajtów ,  2 lata temu
→‎Badania genetyczne: spolszczenie parametrów angielskich szablonów cytowania
m
(→‎Badania genetyczne: spolszczenie parametrów angielskich szablonów cytowania)
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>{{citecytuj journalpismo |lastnazwisko=Zhang |firstimię=Kejian |last2=Filopovich |first2=Alexandra H. |last3=Johnson |first3=Judith |last4=Marsh |first4=Rebecca A. |last5=Villanueva |first5=Joyce |datedata=January 17, 2013 |titletytuł=Hemophagocytic Lymphohistiocytosis, Familial |url=http://www.ncbi.nlm.nih.gov/books/NBK1444/ |journalczasopismo=[[GeneReviews]] |publisherwydawca=[[National Center for Biotechnology Information]] |id=NBK1444 |pmid=20301617 }}</ref> are each associated with a specific gene:
 
* FHL1: ''[[HPLH1]]''
* 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>{{citecytuj journalpismo |vauthors=Trapani JA, Thia KY, Andrews M, etal |titletytuł=Human perforin mutations and susceptibility to multiple primary cancers |journalczasopismo=Oncoimmunology |volumewolumin=2 |issuewydanie=4 |pagesstrony=e24185 |datedata=April 2013 |pmid=23734337 |pmc=3654607 |doi=10.4161/onci.24185 }}</ref>
 
=== Badania laboratoryjne ===
550 479

edycji