Talk:Severe combined immunodeficiency

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Commments

Merged the article X-linked severe combined immunodeficiency into this one. Hope the author of that article isn't too upset because I didn't keep a lot, but it was mostly a cut and paste job from the NIH.

However while working on this article I found the labeling of the main form of SCID as "IL-7 signalling pathway" to be confusing and misleading. As I hope the revised article makes clear, defects in the common gamma chain affect not just IL-7 but also IL-2, IL-4, IL-9 and IL-15, so it is misleading to call it IL-7 related. I changed the name to "common gamma chain (X-linked SCID) to make it clear to readers that this is the common, X-linked form. I then added in some info about inheritance, and split the Jak-3 into its own section. Hope that's clear. Thatcher131 03:48, 13 February 2006 (UTC)[reply]

According to Janeway et al, Immuno Biology, SCID is not necessary a crippeling of the B-lymphocytes. It can also be a crippeling only of a T cell gene for example CD40L causing a defect in transmitting signals from T to B cells. But B cells on their own can function normally. could somebody please doubelcheck?

What is the carrier frequency? Most of the other genetic diseases that I've researched have a carrier frequency. Please, if you know it, add it. neffk 19:05, 10 January 2007 (UTC)[reply]

Why is the inheritance pattern so far into the article? Let's put it into the first paragraph. neffk 19:05, 10 January 2007 (UTC)[reply]

Is this interesting / useful for the artical ?

Rosetta@Home Rosetta@home thread ([1]) has this on SCID

We had a long meeting today with the three other research groups in Seattle we are collaborating with to create DNA cutting enzymes to correct mutations which cause diseases as I described a week or two ago. Our collaborators have tested a DNA cutting enzyme we have designed that targets mutations responsible for severe combined immunodeficiency disorder (SCID) in human cells and the preliminary results are that it targets the SCID site just as we designed it to! the next steps our collaborators will take with this and other disease targeting enzymes we are designing is to deliver them along with the normal (non disease) version of the gene into mice with the disease and see if the mutations are corrected and the disease cured. my students and I are impatient to see if we can cure human diseases with designed DNA cutting enzymes but our collaborators are emphasizing that a lot of testing has to come first.

Just a thought, as those unlucky few that know the disease personally may want to help try and find a cure, or just find out about the different approaches being used to try to cure it.

Hugothehermit 05:48, 2 June 2007 (UTC)[reply]

Discovery

I think we should add about who/when/where/how it got discovered since its about the article, I would do it but im busy, so can some one please do this. RREDD13 (talk) 19:01, 4 November 2008 (UTC)[reply]

links to Icrack

it has been suggested that this disease can be associated with the mutation in the gene for the protein Orai, in which T-cell activation is comprimised by the lack of Icrack —Preceding unsigned comment added by 159.92.100.204 (talk) 12:58, 14 April 2009 (UTC)[reply]

concerns regarding conflicting interests

removed ' and was performed by Memorial Sloan Kettering Cancer Center in New York and also Duke University Medical Center which currently does the highest number of these transplants of any center in the world.^[1] ' From 'treatment' section of text.

References

^ "Severe Combined Immunodeficiency (SCID): Immunodeficiency Disorders: Merck Manual Professional". Retrieved 2008-03-01.

correction/clarification needed

The 'Screening and Diagnosis' section of this article says "About half of US states are performing screening for SCID in newborns using real-time quantitative PCR to measure the concentration of T-cell receptor excision circles.[10] Wisconsin and Massachusetts (as of February 1, 2009) screen newborns for SCID.[11][12] Michigan began screening for SCID in October 2011.[13]" The 2nd and 3rd sentences would seem to imply that only 3 states screen newborns for SCID, while the 1st sentence says that about 25 states ('half of US states') do so. Which is correct? Or is the author trying to say that WI, MA, and MI screen by some method other than quantitative PCR? Niccast (talk) 17:57, 30 August 2018 (UTC)niccast[reply]

[titleSevere_Combined_Immunodeficiency_(SCID):_Immunodeficiency_Disorders:_Merck_Manual_Professional-1] "Severe Combined Immunodeficiency (SCID): Immunodeficiency Disorders: Merck Manual Professional". Retrieved 2008-03-01.

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