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| pubmed-article:14615376 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:14615376 | lifeskim:mentions | umls-concept:C0253457 | lld:lifeskim |
| pubmed-article:14615376 | lifeskim:mentions | umls-concept:C1504389 | lld:lifeskim |
| pubmed-article:14615376 | lifeskim:mentions | umls-concept:C1274040 | lld:lifeskim |
| pubmed-article:14615376 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:14615376 | lifeskim:mentions | umls-concept:C0205470 | lld:lifeskim |
| pubmed-article:14615376 | lifeskim:mentions | umls-concept:C1513380 | lld:lifeskim |
| pubmed-article:14615376 | lifeskim:mentions | umls-concept:C0205210 | lld:lifeskim |
| pubmed-article:14615376 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:14615376 | pubmed:dateCreated | 2004-3-4 | lld:pubmed |
| pubmed-article:14615376 | pubmed:abstractText | We found 10 individuals from 7 unrelated families among 170 severe combined immunodeficiency (SCID) patients who exhibited 9 different Janus kinase 3 (JAK3) mutations. These included 3 missense and 2 nonsense mutations, 1 insertion, and 3 deletions. With the exception of 1 individual with persistence of transplacentally transferred maternal lymphocytes, all infants presented with a T-B+NK- phenotype. The patient mutations all resulted in abnormal B-cell Janus kinase 3 (JAK3)-dependent interleukin-2 (IL-2)-induced signal transducer and activator of transcription-5 (STAT5) phosphorylation. Additional analyses of mutations permitting protein expression revealed the N-terminal JH7 (del58A) and JH6 (D169E) domain mutations each inhibited receptor binding and catalytic activity, whereas the G589S JH2 mutation abrogated kinase activity but did not affect c association. Nine of the 10 patients are currently alive from between 4 years and 18 years following stem cell transplantation, with all exhibiting normal T-cell function. Reconstitution of antibody function was noted in only 3 patients. Natural killer (NK) function was severely depressed at presentation in the 4 patients studied, whereas after transplantation the only individuals with normal NK lytic activity were patients 1 and 5. Hence, bone marrow transplantation is an effective means for reconstitution of T-cell immunity in this defect but is less successful for restoration of B-cell and NK cell functions. | lld:pubmed |
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| pubmed-article:14615376 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:14615376 | pubmed:citationSubset | AIM | lld:pubmed |
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| pubmed-article:14615376 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:14615376 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:14615376 | pubmed:issn | 0006-4971 | lld:pubmed |
| pubmed-article:14615376 | pubmed:author | pubmed-author:O'SheaJohn... | lld:pubmed |
| pubmed-article:14615376 | pubmed:author | pubmed-author:BuckleyRebecc... | lld:pubmed |
| pubmed-article:14615376 | pubmed:author | pubmed-author:DannW JWJ | lld:pubmed |
| pubmed-article:14615376 | pubmed:author | pubmed-author:ZhouYong-JieY... | lld:pubmed |
| pubmed-article:14615376 | pubmed:author | pubmed-author:LengiAndreaA | lld:pubmed |
| pubmed-article:14615376 | pubmed:author | pubmed-author:RobertsJoseph... | lld:pubmed |
| pubmed-article:14615376 | pubmed:author | pubmed-author:BrownStephani... | lld:pubmed |
| pubmed-article:14615376 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:14615376 | pubmed:day | 15 | lld:pubmed |
| pubmed-article:14615376 | pubmed:volume | 103 | lld:pubmed |
| pubmed-article:14615376 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:14615376 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:14615376 | pubmed:pagination | 2009-18 | lld:pubmed |
| pubmed-article:14615376 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
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| pubmed-article:14615376 | pubmed:year | 2004 | lld:pubmed |
| pubmed-article:14615376 | pubmed:articleTitle | Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. | lld:pubmed |
| pubmed-article:14615376 | pubmed:affiliation | Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. rober060@mc.duke.edu | lld:pubmed |
| pubmed-article:14615376 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:14615376 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
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