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Items: 1 to 20 of 283

1.

Dissection of SAP-dependent and SAP-independent SLAM family signaling in NKT cell development and humoral immunity.

Chen S, Cai C, Li Z, Liu G, Wang Y, Blonska M, Li D, Du J, Lin X, Yang M, Dong Z.

J Exp Med. 2017 Jan 3. pii: jem.20161312. doi: 10.1084/jem.20161312. [Epub ahead of print]

PMID:
28049627
2.

How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease.

Nielsen OH, LaCasse EC.

Genet Med. 2016 Jul 14. doi: 10.1038/gim.2016.82. [Epub ahead of print] Review.

PMID:
27416006
3.

Lymphoproliferative Disease, X-Linked.

Zhang K, Wakefield E, Marsh R.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2004 Feb 27 [updated 2016 Jun 30].

4.

Variable clinical phenotypes of X-linked lymphoproliferative syndrome in China: Report of five cases with three novel mutations and review of the literature.

Jin YY, Zhou W, Tian ZQ, Chen TX.

Hum Immunol. 2016 Aug;77(8):658-66. doi: 10.1016/j.humimm.2016.06.005.

PMID:
27288720
5.

Two Unrelated Burkitt Lymphomas Seven Years Apart in a Patient With X-Linked Lymphoproliferative Disease Type 1 (XLP1).

Zhou D, Paxton CN, Kelley TW, Afify Z, South ST, Miles RR.

Am J Clin Pathol. 2016 Aug;146(2):248-53. doi: 10.1093/ajcp/aqw036.

PMID:
27287777
6.

Stepwise phosphorylation of p65 promotes NF-κB activation and NK cell responses during target cell recognition.

Kwon HJ, Choi GE, Ryu S, Kwon SJ, Kim SC, Booth C, Nichols KE, Kim HS.

Nat Commun. 2016 May 25;7:11686. doi: 10.1038/ncomms11686.

7.

Progressive reduction of circulating B lymphocytes in patients with X-linked lymphoproliferative disease (XLP).

Baré P, Parodi C, Malbrán A, de Bracco MM.

Br J Haematol. 2016 May 25. doi: 10.1111/bjh.14087. [Epub ahead of print] No abstract available.

PMID:
27220551
8.

Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience.

Patiroglu T, Akar HH, Unal E, Ozdemir MA, Karakukcu M.

Exp Clin Transplant. 2016 Mar 21. doi: 10.6002/ect.2015.0233. [Epub ahead of print]

9.

Inhibition of diacylglycerol kinase α restores restimulation-induced cell death and reduces immunopathology in XLP-1.

Ruffo E, Malacarne V, Larsen SE, Das R, Patrussi L, Wülfing C, Biskup C, Kapnick SM, Verbist K, Tedrick P, Schwartzberg PL, Baldari CT, Rubio I, Nichols KE, Snow AL, Baldanzi G, Graziani A.

Sci Transl Med. 2016 Jan 13;8(321):321ra7. doi: 10.1126/scitranslmed.aad1565.

10.

A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.

Kelsen JR, Dawany N, Martinez A, Grochowski CM, Maurer K, Rappaport E, Piccoli DA, Baldassano RN, Mamula P, Sullivan KE, Devoto M.

BMC Gastroenterol. 2015 Nov 18;15:160. doi: 10.1186/s12876-015-0394-z. Erratum in: BMC Gastroenterol. 2015;15:179. Martinez, Alejuandro [corrected to Martinez, Alejandro].

11.

Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant.

Gray PE, O'Brien TA, Wagle M, Tangye SG, Palendira U, Roscioli T, Choo S, Sutton R, Ziegler JB, Frith K.

J Clin Immunol. 2015 Oct;35(7):604-9. doi: 10.1007/s10875-015-0194-9.

PMID:
26433589
12.

Study of SH2D1A gene mutation in paediatric patients with B-cell lymphoma.

Koochakzadeh L, Hosseinverdi S, Hedayat M, Farahani F, Tofighi A, Eghbali M, Bidoki AZ, Izadyar M, Rahiminejad MS, Ramyar A, Aghamohammadi A, Rezaei N.

Allergol Immunopathol (Madr). 2015 Nov-Dec;43(6):568-70. doi: 10.1016/j.aller.2015.01.007.

PMID:
25982576
13.

Hemophagocytic lymphohistiocytosis in a female patient due to a heterozygous XIAP mutation and skewed X chromosome inactivation.

Holle JR, Marsh RA, Holdcroft AM, Davies SM, Wang L, Zhang K, Jordan MB.

Pediatr Blood Cancer. 2015 Jul;62(7):1288-90. doi: 10.1002/pbc.25483.

PMID:
25801017
14.

A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.

Yang X, Hoshino A, Taga T, Kunitsu T, Ikeda Y, Yasumi T, Yoshida K, Wada T, Miyake K, Kubota T, Okuno Y, Muramatsu H, Adachi Y, Miyano S, Ogawa S, Kojima S, Kanegane H.

J Clin Immunol. 2015 Apr;35(3):244-8. doi: 10.1007/s10875-015-0144-6.

PMID:
25744037
15.

The immunology of Epstein-Barr virus-induced disease.

Taylor GS, Long HM, Brooks JM, Rickinson AB, Hislop AD.

Annu Rev Immunol. 2015;33:787-821. doi: 10.1146/annurev-immunol-032414-112326. Review.

PMID:
25706097
16.

Severe XLP Phenotype Caused by a Novel Intronic Mutation in the SH2D1A Gene.

Tóth B, Soltész B, Gyimesi E, Csorba G, Veres Á, Lányi Á, Kovács G, Maródi L, Erdős M.

J Clin Immunol. 2015 Jan;35(1):26-31. doi: 10.1007/s10875-014-0117-1.

PMID:
25491288
17.

Successful treatment of idiopathic colitis related to XIAP deficiency with allo-HSCT using reduced-intensity conditioning.

Tsuma Y, Imamura T, Ichise E, Sakamoto K, Ouchi K, Osone S, Ishida H, Wada T, Hosoi H.

Pediatr Transplant. 2015 Feb;19(1):E25-8. doi: 10.1111/petr.12405.

PMID:
25412586
18.

SLAM-SAP signaling promotes differentiation of IL-17-producing T cells and progression of experimental autoimmune encephalomyelitis.

Huang YH, Tsai K, Ma C, Vallance BA, Priatel JJ, Tan R.

J Immunol. 2014 Dec 15;193(12):5841-53. doi: 10.4049/jimmunol.1301435.

19.

Inhibitors of apoptosis (IAPs) regulate intestinal immunity and inflammatory bowel disease (IBD) inflammation.

Pedersen J, LaCasse EC, Seidelin JB, Coskun M, Nielsen OH.

Trends Mol Med. 2014 Nov;20(11):652-65. doi: 10.1016/j.molmed.2014.09.006. Review.

PMID:
25282548
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