ZAP70 deficiency: Difference between revisions
Brian Blank (talk | contribs) No edit summary |
m (Robot: Automated text replacement (-{{reflist}} +{{reflist|2}}, -<references /> +{{reflist|2}}, -{{WikiDoc Cardiology Network Infobox}} +)) |
||
(One intermediate revision by the same user not shown) | |||
Line 1: | Line 1: | ||
{{SI}} | {{SI}} | ||
==Overview== | ==Overview== | ||
'''ZAP70 deficiency''' ([[zeta-chain-associated protein 70 kD]] deficiency) is a rare, [[autosomal recessive]] form of [[severe combined immunodeficiency]] (SCID).<ref name="pmid12149205">{{cite journal |author=Otsu M, Steinberg M, Ferrand C, ''et al'' |title=Reconstitution of lymphoid development and function in ZAP-70-deficient mice following gene transfer into bone marrow cells |journal=Blood |volume=100 |issue=4 |pages=1248–56 |year=2002 |pmid=12149205 |doi=10.1182/blood-2002-01-0247 |url=http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=12149205}}</ref> | '''ZAP70 deficiency''' ([[zeta-chain-associated protein 70 kD]] deficiency) is a rare, [[autosomal recessive]] form of [[severe combined immunodeficiency]] (SCID).<ref name="pmid12149205">{{cite journal |author=Otsu M, Steinberg M, Ferrand C, ''et al'' |title=Reconstitution of lymphoid development and function in ZAP-70-deficient mice following gene transfer into bone marrow cells |journal=Blood |volume=100 |issue=4 |pages=1248–56 |year=2002 |pmid=12149205 |doi=10.1182/blood-2002-01-0247 |url=http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=12149205}}</ref> | ||
Line 11: | Line 11: | ||
==References== | ==References== | ||
{{reflist}} | {{reflist|2}} | ||
==External links== | ==External links== | ||
Line 20: | Line 20: | ||
{{Immune disorders}} | {{Immune disorders}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] |
Latest revision as of 16:03, 6 September 2012
WikiDoc Resources for ZAP70 deficiency |
Articles |
---|
Most recent articles on ZAP70 deficiency Most cited articles on ZAP70 deficiency |
Media |
Powerpoint slides on ZAP70 deficiency |
Evidence Based Medicine |
Clinical Trials |
Ongoing Trials on ZAP70 deficiency at Clinical Trials.gov Trial results on ZAP70 deficiency Clinical Trials on ZAP70 deficiency at Google
|
Guidelines / Policies / Govt |
US National Guidelines Clearinghouse on ZAP70 deficiency NICE Guidance on ZAP70 deficiency
|
Books |
News |
Commentary |
Definitions |
Patient Resources / Community |
Patient resources on ZAP70 deficiency Discussion groups on ZAP70 deficiency Patient Handouts on ZAP70 deficiency Directions to Hospitals Treating ZAP70 deficiency Risk calculators and risk factors for ZAP70 deficiency
|
Healthcare Provider Resources |
Causes & Risk Factors for ZAP70 deficiency |
Continuing Medical Education (CME) |
International |
|
Business |
Experimental / Informatics |
Overview
ZAP70 deficiency (zeta-chain-associated protein 70 kD deficiency) is a rare, autosomal recessive form of severe combined immunodeficiency (SCID).[1]
Presentation
It is characterized by a lack of CD8+ T cells and the presence of circulating CD4+ T cells which are unresponsive to T-cell receptor (TCR)-mediated stimuli.[2]
Treatment
No cure currently exists; however, gene therapy has been proposed.[3][4]
References
- ↑ Otsu M, Steinberg M, Ferrand C; et al. (2002). "Reconstitution of lymphoid development and function in ZAP-70-deficient mice following gene transfer into bone marrow cells". Blood. 100 (4): 1248–56. doi:10.1182/blood-2002-01-0247. PMID 12149205.
- ↑ Template:MerckManual
- ↑ Adjali O, Marodon G, Steinberg M; et al. (2005). "In vivo correction of ZAP-70 immunodeficiency by intrathymic gene transfer". J. Clin. Invest. 115 (8): 2287–95. doi:10.1172/JCI23966. PMID 16075064.
- ↑ Irla M, Saade M, Kissenpfennig A; et al. (2008). "ZAP-70 restoration in mice by in vivo thymic electroporation". PLoS ONE. 3 (4): e2059. doi:10.1371/journal.pone.0002059. PMC 2323614. PMID 18446234.