Guest guest Posted December 13, 2005 Report Share Posted December 13, 2005 F, I think did a great job answering your BMT questions, but since you wanted to know about XHIM (X-linked Hyper IgM), I thought I'd respond also. XHIM is caused by a defect on the CD40 ligand, which affects both T & B cell production, which in turn affects the antibody production. As expected, before transplant, my boys were able to produce their own IgM, but not any other antibodies. Some XHIM patients produce too much IgM, hence the name " hyper IgM. " Neutropenia is also a problem with some XHIM patients. Both our boys had chronic neutropenia and had to be on GCSF. At first, our oldest son was thought to have SCID, then CVID, then FINALLY diagnosed with XHIM after his brother was born. I do know that we are expecting to be totally cured...both T & B cell function fixed! It just takes time to get all your immune function up and running after transplant (usually at least a year), so in the meantime, GCSF and IVIG is used when you're low. We are suppose to be the 4th & 5th XHIM BMTs at Duke. The other 3 were successful, although we've only met and spoken with one of those. Hope this info was helpful. I've heard of XLA, but can't remember the details....care to give me a refresher? Wishing you the best, T.~ Mom to Kaitlyn,13 (healthy, double BMT donor- our hero!) ,10 (XHIM, 8 mo. post BMT) , 5 (XHIM, 8 mo. post BMT) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 14, 2005 Report Share Posted December 14, 2005 T.... How wonderful that Kaitlyn has the distinction of " hero " in your family----it really makes her an indispensable part of her brothers' medical care! I presume that she was a great match and close relative.....which should help the transplant succeed??? F mom of Calvin, 4yo, XLA T.~ Mom to Kaitlyn,13 (healthy, double BMT donor- our hero!) --------------------------------- Find Great Deals on Holiday Gifts at Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 16, 2005 Report Share Posted December 16, 2005 Hi, F~ Yes, Kaitlyn definitely is a special part of our medical care for the boys. She was a " perfect match " (6/6) for and a good match for (5/6). Funny thing is, has actually done better, faster on his immune studies since transplant, although he had the mismatch. And yes, a matched, related donor is a BIG advantage in having a successful outcome, we're told. If we hadn't had a related match, the risks of a BMT weighed against the risks of living with XHIM, were too high....in other words, the doctors wouldn't have recommended a transplant. I still am confused about what XLA is....might have to get my IDF handbook out. I hope it's listed...XHIM wasn't for quite a while, which was frustrating! Hope things are going well with Calvin. ~ T. Mom of Kaitlyn,13 (healthy donor for double BMT) ,10 (XHIM, 8 months postBMT) , 5 (XHIM, 8 months postBMT) Message: 4 Date: Wed, 14 Dec 2005 07:51:54 -0800 (PST) From: lisa fisher <blessd8@...> Subject: Re: XHIM BMTs T.... How wonderful that Kaitlyn has the distinction of " hero " in your family----it really makes her an indispensable part of her brothers' medical care! I presume that she was a great match and close relative.....which should help the transplant succeed??? F mom of Calvin, 4yo, XLA T.~ Mom to Kaitlyn,13 (healthy, double BMT donor- our hero!) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 17, 2005 Report Share Posted December 17, 2005 T I have meant to get back to you about XLA....but life is busy here these days. I intend to write an email and then about three days fly by when I am not looking:-). XLA stands for X-linked Agammaglobulinemia. It is also known as Bruton's Agammaglobulinemia. It is X-linked like XLHM. It is basically completely confined to the population of boys-----though there are girls that have B-cell defects that may act like XLA. XLA boys make B-cells of the immature kind, but have no mature B-cells. This leads researchers to theorize that there is a breakdown in the maturation process. The most obvious result is the almost complete absence of Igs of any kind. Calvin has no IgG, IgA, IgM, IgE or any other Igs. They have identified the genetic location of XLA: a gene known as Bruton's Tyrosine Kinase (or BTK). I think that XLA was the first PID for which they located the genetic basis. They do not routinely do BMTs for XLA since the IG treatment is SO compatible that most XLA boys are relatively healthy with IG treatment. Calvin also uses prophylactic abx to help address the absince of IgA----which is not replaced by IG products. Matter of fact, XLA boys commonly require a very low IgA product like Gammaguard, since they are prone to develop resistance to the IgA in IG products. This happens when there is a complete absence of IgA in their system. This does vary from patient to patient. Gene therapy for XLA may be a possibility in the not-so-distant future, since the genetic basis of XLA is well-known. I think that everyone is waiting and watching the long-term outcomes of patients with more severe disease who have had genetic therapy. Again, the risk-benefit ratio does not warrant transplant/gene therapy since XLA patients are relatively healthy with IG replacement. That's all the info I have off of the top of my head. I think that the IG treatment " fits " the deficiency very well and that is why most of us XLA folks live relatively quiet medical lives. That being said, I have also heard that there is a mortality of 10% for every 10 years of life for XLA boys...and life for us before Calvin's diagnosis was not easy at all. It is only by God's providence and care that my son did not die, or become severely handicapped because of illness. Calvin was dxed at 18 mos. I can also mention that Calvin presented first with neutropenia(cyclic) and sepsis. It is not unusual to have neutropenia along with XLA----though it is not present in a majority of patients. For calvin, his neutrophil counts have stablized somewhat with treatment, though they are not completely stable. His ANC has not been " clinical " since IG treatment. HOpe that helps. Fisher mom of Calvin, 4yo, XLA mptatem@... wrote: Hi, F~ Yes, Kaitlyn definitely is a special part of our medical care for the boys. She was a " perfect match " (6/6) for and a good match for (5/6). Funny thing is, has actually done better, faster on his immune studies since transplant, although he had the mismatch. And yes, a matched, related donor is a BIG advantage in having a successful outcome, we're told. If we hadn't had a related match, the risks of a BMT weighed against the risks of living with XHIM, were too high....in other words, the doctors wouldn't have recommended a transplant. I still am confused about what XLA is....might have to get my IDF handbook out. I hope it's listed...XHIM wasn't for quite a while, which was frustrating! Hope things are going well with Calvin. ~ T. Mom of Kaitlyn,13 (healthy donor for double BMT) ,10 (XHIM, 8 months postBMT) , 5 (XHIM, 8 months postBMT) Message: 4 Date: Wed, 14 Dec 2005 07:51:54 -0800 (PST) From: lisa fisher <blessd8@...> Subject: Re: XHIM BMTs T.... How wonderful that Kaitlyn has the distinction of " hero " in your family----it really makes her an indispensable part of her brothers' medical care! I presume that she was a great match and close relative.....which should help the transplant succeed??? F mom of Calvin, 4yo, XLA T.~ Mom to Kaitlyn,13 (healthy, double BMT donor- our hero!) This forum is open to parents and caregivers of children diagnosed with a Primary Immune Deficiency. Opinions or medical advice stated here are the sole responsibility of the poster and should not be taken as professional advice. To unsubscribe -unsubscribegroups (DOT) To search group archives go to: /messages Quote Link to comment Share on other sites More sharing options...
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