139 related articles for article (PubMed ID: 36503158)
1. Monogenic inflammatory bowel disease with STXBP2 mutations is not resolved by hematopoietic stem cell transplantation but can be alleviated via immunosuppressive drug therapy.
Fujikawa H; Shimizu H; Nambu R; Takeuchi I; Matsui T; Sakamoto K; Gocho Y; Miyamoto T; Yasumi T; Yoshioka T; Arai K
Clin Immunol; 2023 Jan; 246():109203. PubMed ID: 36503158
[TBL] [Abstract][Full Text] [Related]
2. Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations.
Stepensky P; Bartram J; Barth TF; Lehmberg K; Walther P; Amann K; Philips AD; Beringer O; Zur Stadt U; Schulz A; Amrolia P; Weintraub M; Debatin KM; Hoenig M; Posovszky C
Pediatr Blood Cancer; 2013 Jul; 60(7):1215-22. PubMed ID: 23382066
[TBL] [Abstract][Full Text] [Related]
3. Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis.
Viñas-Giménez L; Rincón R; Colobran R; de la Cruz X; Celis VP; Dapena JL; Alsina L; Sayós J; Martínez-Gallo M
Front Immunol; 2021; 12():723836. PubMed ID: 34630398
[TBL] [Abstract][Full Text] [Related]
4.
Benavides N; Spessott WA; Sanmillan ML; Vargas M; Livingston MS; Erickson N; Pozos TC; McCormick ME; Scharrig E; Messinger YH; Giraudo CG
Front Immunol; 2020; 11():545414. PubMed ID: 33162974
[TBL] [Abstract][Full Text] [Related]
5. Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
Rohr J; Beutel K; Maul-Pavicic A; Vraetz T; Thiel J; Warnatz K; Bondzio I; Gross-Wieltsch U; Schündeln M; Schütz B; Woessmann W; Groll AH; Strahm B; Pagel J; Speckmann C; Janka G; Griffiths G; Schwarz K; zur Stadt U; Ehl S
Haematologica; 2010 Dec; 95(12):2080-7. PubMed ID: 20823128
[TBL] [Abstract][Full Text] [Related]
6. Familial hemophagocytic lymphohistiocytosis type 5 in a Chinese Tibetan patient caused by a novel compound heterozygous mutation in STXBP2.
Tang X; Guo X; Li Q; Huang Z
Medicine (Baltimore); 2019 Oct; 98(43):e17674. PubMed ID: 31651895
[TBL] [Abstract][Full Text] [Related]
7. Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.
Spessott WA; Sanmillan ML; McCormick ME; Patel N; Villanueva J; Zhang K; Nichols KE; Giraudo CG
Blood; 2015 Mar; 125(10):1566-77. PubMed ID: 25564401
[TBL] [Abstract][Full Text] [Related]
8. Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2.
Seo JY; Lee KO; Yoo KH; Sung KW; Koo HH; Kim SH; Kang HJ; Park KD; Shin HY; Baek HJ; Kook H; Lyu CJ; Song JS; Lee MJ; Kim JY; Lim YT; Koh KN; Im HJ; Seo JJ; Kim HJ;
Clin Genet; 2016 Feb; 89(2):222-7. PubMed ID: 26451869
[TBL] [Abstract][Full Text] [Related]
9. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.
Côte M; Ménager MM; Burgess A; Mahlaoui N; Picard C; Schaffner C; Al-Manjomi F; Al-Harbi M; Alangari A; Le Deist F; Gennery AR; Prince N; Cariou A; Nitschke P; Blank U; El-Ghazali G; Ménasché G; Latour S; Fischer A; de Saint Basile G
J Clin Invest; 2009 Dec; 119(12):3765-73. PubMed ID: 19884660
[TBL] [Abstract][Full Text] [Related]
10. Novel STXBP2 mutation causing familial hemophagocytic lymphohistiocytosis.
Jain R; Puliyel M; Moses PD; Sieni E
Indian Pediatr; 2012 Jun; 49(6):488-90. PubMed ID: 22796692
[TBL] [Abstract][Full Text] [Related]
11. STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
Cetica V; Santoro A; Gilmour KC; Sieni E; Beutel K; Pende D; Marcenaro S; Koch F; Grieve S; Wheeler R; Zhao F; zur Stadt U; Griffiths GM; Aricò M
J Med Genet; 2010 Sep; 47(9):595-600. PubMed ID: 20798128
[TBL] [Abstract][Full Text] [Related]
12. Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.
Meeths M; Entesarian M; Al-Herz W; Chiang SC; Wood SM; Al-Ateeqi W; Almazan F; Boelens JJ; Hasle H; Ifversen M; Lund B; van den Berg JM; Gustafsson B; Hjelmqvist H; Nordenskjöld M; Bryceson YT; Henter JI
Blood; 2010 Oct; 116(15):2635-43. PubMed ID: 20558610
[TBL] [Abstract][Full Text] [Related]
13. Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity.
Viñas-Giménez L; Donadeu L; Alsina L; Rincón R; de la Campa EÁ; Esteve-Sole A; Català A; Colobran R; de la Cruz X; Sayós J; Martínez-Gallo M
Int J Hematol; 2020 Mar; 111(3):440-450. PubMed ID: 31865540
[TBL] [Abstract][Full Text] [Related]
14. Type 5 Familial Hemophagocytic Lymphohistiocytosis in a Seven-year-old Girl Post Second Bone Marrow Transplantation with Failure to Thrive: STXBP2 Novel Mutation.
Baothman A; Almalki H; Abumelha K; Alshegifi A; Baashar A
Cureus; 2019 Nov; 11(11):e6246. PubMed ID: 31807395
[TBL] [Abstract][Full Text] [Related]
15. Angeborene hämophagozytische Lymphohistiozytose (HLH).
Pachlopnik Schmid J; de Saint Basile G
Klin Padiatr; 2010 Nov; 222(6):345-50. PubMed ID: 20458667
[TBL] [Abstract][Full Text] [Related]
16. Treatment of pediatric primary hemophagocytic lymphohistiocytosis with the HLH-94/2004 regimens and hematopoietic stem cell transplantation in China.
Ma H; Zhang R; Zhang L; Wei A; Zhao X; Yang Y; Liu W; Li Z; Qin M; Wang T
Ann Hematol; 2020 Oct; 99(10):2255-2263. PubMed ID: 32766934
[TBL] [Abstract][Full Text] [Related]
17. Intrinsic defects in erythroid cells from familial hemophagocytic lymphohistiocytosis type 5 patients identify a role for STXBP2/Munc18-2 in erythropoiesis and phospholipid scrambling.
Kostova EB; Beuger BM; Veldthuis M; van der Werff Ten Bosch J; Kühnle I; van den Akker E; van den Berg TK; van Zwieten R; van Bruggen R
Exp Hematol; 2015 Dec; 43(12):1072-1076.e2. PubMed ID: 26320718
[TBL] [Abstract][Full Text] [Related]
18. Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan.
Ono S; Okano T; Hoshino A; Yanagimachi M; Hamamoto K; Nakazawa Y; Imamura T; Onuma M; Niizuma H; Sasahara Y; Tsujimoto H; Wada T; Kunisaki R; Takagi M; Imai K; Morio T; Kanegane H
J Clin Immunol; 2017 Jan; 37(1):85-91. PubMed ID: 27815752
[TBL] [Abstract][Full Text] [Related]
19. The expanding spectrum of hemophagocytic lymphohistiocytosis.
Filipovich AH
Curr Opin Allergy Clin Immunol; 2011 Dec; 11(6):512-6. PubMed ID: 21971331
[TBL] [Abstract][Full Text] [Related]
20. A Case of Fetal Familial Hemophagocytic Lymphohistiocytosis Type 5 caused by STXBP2 Gene Mutation.
Fu C; Wen R; Zhou J; Hu J; Liu X
Clin Lab; 2023 Dec; 69(12):. PubMed ID: 38084697
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]