174 related articles for article (PubMed ID: 25943627)
1. Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency.
Dziadzio M; Ammann S; Canning C; Boyle F; Hassan A; Cale C; Elawad M; Fiil BK; Gyrd-Hansen M; Salzer U; Speckmann C; Grimbacher B
J Clin Immunol; 2015 Jul; 35(5):439-44. PubMed ID: 25943627
[TBL] [Abstract][Full Text] [Related]
2. Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.
Aguilar C; Lenoir C; Lambert N; Bègue B; Brousse N; Canioni D; Berrebi D; Roy M; Gérart S; Chapel H; Schwerd T; Siproudhis L; Schäppi M; Al-Ahmari A; Mori M; Yamaide A; Galicier L; Neven B; Routes J; Uhlig HH; Koletzko S; Patel S; Kanegane H; Picard C; Fischer A; Bensussan NC; Ruemmele F; Hugot JP; Latour S
J Allergy Clin Immunol; 2014 Nov; 134(5):1131-41.e9. PubMed ID: 24942515
[TBL] [Abstract][Full Text] [Related]
3. A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.
Ammann S; Elling R; Gyrd-Hansen M; Dückers G; Bredius R; Burns SO; Edgar JD; Worth A; Brandau H; Warnatz K; Zur Stadt U; Hasselblatt P; Schwarz K; Ehl S; Speckmann C
Clin Exp Immunol; 2014 Jun; 176(3):394-400. PubMed ID: 24611904
[TBL] [Abstract][Full Text] [Related]
4. Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.
Schwerd T; Pandey S; Yang HT; Bagola K; Jameson E; Jung J; Lachmann RH; Shah N; Patel SY; Booth C; Runz H; Düker G; Bettels R; Rohrbach M; Kugathasan S; Chapel H; Keshav S; Elkadri A; Platt N; Muise AM; Koletzko S; Xavier RJ; Marquardt T; Powrie F; Wraith JE; Gyrd-Hansen M; Platt FM; Uhlig HH
Gut; 2017 Jun; 66(6):1060-1073. PubMed ID: 26953272
[TBL] [Abstract][Full Text] [Related]
5. Nucleotide-binding oligomerization domain (NOD) signaling defects and cell death susceptibility cannot be uncoupled in X-linked inhibitor of apoptosis (XIAP)-driven inflammatory disease.
Chirieleison SM; Marsh RA; Kumar P; Rathkey JK; Dubyak GR; Abbott DW
J Biol Chem; 2017 Jun; 292(23):9666-9679. PubMed ID: 28404814
[TBL] [Abstract][Full Text] [Related]
6. Clinical phenotype and functional analysis of a rare XIAP/BIRC4 mutation.
Vieth S; Ammann S; Schwarz K; Härtel C; Schultz C; Lehmberg K; Lauten M
Klin Padiatr; 2013 Nov; 225(6):343-6. PubMed ID: 24166087
[TBL] [Abstract][Full Text] [Related]
7. X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic.
Xu T; Zhao Q; Li W; Chen X; Xue X; Chen Z; Du X; Bai X; Zhao Q; Zhou L; Tang X; Yang X; Kanegane H; Zhao X
Eur J Pediatr; 2020 Feb; 179(2):327-338. PubMed ID: 31754776
[TBL] [Abstract][Full Text] [Related]
8. A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency.
Marsh RA; Villanueva J; Zhang K; Snow AL; Su HC; Madden L; Mody R; Kitchen B; Marmer D; Jordan MB; Risma KA; Filipovich AH; Bleesing JJ
Cytometry B Clin Cytom; 2009 Sep; 76(5):334-44. PubMed ID: 19288545
[TBL] [Abstract][Full Text] [Related]
9. The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency.
Girardelli M; Arrigo S; Barabino A; Loganes C; Morreale G; Crovella S; Tommasini A; Bianco AM
BMC Pediatr; 2015 Dec; 15():208. PubMed ID: 26671016
[TBL] [Abstract][Full Text] [Related]
10. Clinical flow cytometric screening of SAP and XIAP expression accurately identifies patients with SH2D1A and XIAP/BIRC4 mutations.
Gifford CE; Weingartner E; Villanueva J; Johnson J; Zhang K; Filipovich AH; Bleesing JJ; Marsh RA
Cytometry B Clin Cytom; 2014 Jul; 86(4):263-71. PubMed ID: 24616127
[TBL] [Abstract][Full Text] [Related]
11. Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation.
Nishida N; Yang X; Takasaki I; Imai K; Kato K; Inoue Y; Imamura T; Miyashita R; Kato F; Yamaide A; Mori M; Saito S; Hara J; Adachi Y; Miyawaki T; Kanegane H
J Investig Allergol Clin Immunol; 2015; 25(3):205-13. PubMed ID: 26182687
[TBL] [Abstract][Full Text] [Related]
12. Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling.
Damgaard RB; Fiil BK; Speckmann C; Yabal M; zur Stadt U; Bekker-Jensen S; Jost PJ; Ehl S; Mailand N; Gyrd-Hansen M
EMBO Mol Med; 2013 Aug; 5(8):1278-95. PubMed ID: 23818254
[TBL] [Abstract][Full Text] [Related]
13. Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency.
Marsh RA; Bleesing JJ; Filipovich AH
J Immunol Methods; 2010 Oct; 362(1-2):1-9. PubMed ID: 20816973
[TBL] [Abstract][Full Text] [Related]
14. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease.
Marsh RA; Madden L; Kitchen BJ; Mody R; McClimon B; Jordan MB; Bleesing JJ; Zhang K; Filipovich AH
Blood; 2010 Aug; 116(7):1079-82. PubMed ID: 20489057
[TBL] [Abstract][Full Text] [Related]
15. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
Rigaud S; Fondanèche MC; Lambert N; Pasquier B; Mateo V; Soulas P; Galicier L; Le Deist F; Rieux-Laucat F; Revy P; Fischer A; de Saint Basile G; Latour S
Nature; 2006 Nov; 444(7115):110-4. PubMed ID: 17080092
[TBL] [Abstract][Full Text] [Related]
16. Analysis of Genes Associated With Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn's Disease.
Amininejad L; Charloteaux B; Theatre E; Liefferinckx C; Dmitrieva J; Hayard P; Muls V; Maisin JM; Schapira M; Ghislain JM; Closset P; Talib M; Abramowicz M; Momozawa Y; Deffontaine V; Crins F; Mni M; Karim L; Cambisano N; Ornemese S; Zucchi A; Minsart C; Deviere J; Hugot JP; De Vos M; Louis E; Vermeire S; Van Gossum A; Coppieters W; Twizere JC; Georges M; Franchimont D;
Gastroenterology; 2018 Jun; 154(8):2165-2177. PubMed ID: 29501442
[TBL] [Abstract][Full Text] [Related]
17. Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency.
Wada T; Kanegane H; Ohta K; Katoh F; Imamura T; Nakazawa Y; Miyashita R; Hara J; Hamamoto K; Yang X; Filipovich AH; Marsh RA; Yachie A
Cytokine; 2014 Jan; 65(1):74-8. PubMed ID: 24084330
[TBL] [Abstract][Full Text] [Related]
18. X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome.
Aguilar C; Latour S
J Clin Immunol; 2015 May; 35(4):331-8. PubMed ID: 25737324
[TBL] [Abstract][Full Text] [Related]
19. Haploidentical Hematopoietic Stem Cell Transplantation for XIAP Deficiency: a Single-Center Report.
Yang J; Zhu GH; Wang B; Zhang R; Jia CG; Yan Y; Ma HH; Qin MQ
J Clin Immunol; 2020 Aug; 40(6):893-900. PubMed ID: 32627096
[TBL] [Abstract][Full Text] [Related]
20. X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis.
Steele CL; Doré M; Ammann S; Loughrey M; Montero A; Burns SO; Morris EC; Gaspar B; Gilmour K; Bibi S; Shendi H; Devlin L; Speckmann C; Edgar DM
J Clin Immunol; 2016 Oct; 36(7):733-8. PubMed ID: 27492372
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
