[PAGID] diabetes and hypogammaglobulinemia
Jack Bleesing
Jack.Bleesing at cchmc.org
Sat May 5 08:48:19 EDT 2007
With the ALPS patient I follow that would make 3 with DM. Autoimmunity in ALPS seems to reflect defective Fas[-mediated apoptosis] characterized predominantly by autoimmune cytopenias and autoimmunity reflected by other - background (familial) genes.
JB
---------------------------------------------------------------------------
Jack J.H. Bleesing, M.D., Ph.D.
Cincinnati Children's Hospital Medical Center
Division of Hematology/Oncology
3333 Burnet Avenue, MLC 7015
Cincinnati, OH 45229
513-636-4266 (phone)
513-636-3549 (fax)
Jack.Bleesing at CCHMC.org
http://www.cincinnatichildrens.org/immunodeficiencies/
>>> cmseroogy at wisc.edu 05/04/07 8:23 PM >>>
I just had a case of ALPS in a 15 year old with type I DM since 15
months of age. He just presented with ITP which led to the diagnosis
of ALPS confirmed by genetic screening. Our patient has a previously
described mutation in FAS. I am wondering if the other patient with
this presentation had genetic testing? Chris
On May 4, 2007, at 2:35 PM, Fleisher, Thomas (NIH/CC/DLM) [E] wrote:
> DM is not typical of ALPS nor are antibody deficiencies.
>
>
>
> Thomas A. Fleisher, M.D.
>
> Chief, Department of Laboratory Medicine
>
> Clinical Center, NIH
>
> Bethesda, MD 20892-1508
>
> Tel 301 496-5668
>
> Fax 301 402-1612
>
> From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-
> bounces at list.clinimmsoc.org] On Behalf Of Paris, Kenneth
> Sent: Friday, May 04, 2007 3:30 PM
> To: pagid at list.clinimmsoc.org
> Subject: RE: [PAGID] diabetes and hypogammaglobulinemia
>
>
>
> Hi,
>
>
>
> Ricardo and I follow a teenage boy with a phenotype consistent with
> ALPS. He also has Type I DM since 2-3 years of age. Our initial
> workup revealed normal total immunoglobulins, with mild IgG
> subclass abnormalities and normal response to both protein and
> polysaccharide antigens. Interestingly, he then developed
> recurrent ITP which has been treated with IVIG several times, as
> well as WinRho. He is doing well now, with resolution of the
> thrombocytopenia for the last year or so, and no history of any
> recurrent infections.
>
>
>
> The history below doesn't mention any history of lymphadenopathy,
> but I might consider ALPS in the differential if there is recurrent
> lymphadenopathy. My understanding is the phenotype can be quite
> varied. Unlike the patient described below, it is associated with
> an increase in IgG, but not in all cases from what I've read. Our
> ALPS patient had normal total IgG with subclass deficiencies.
> There is certainly an association between ALPS and Type I DM and
> other autoimmune phenomenon (ITP, Evan's Syndrome etc).
>
>
>
> Ken Paris MD
>
> Dept of Allergy/Immunology
>
> LSU New Orleans
>
> Children's Hospital of New Orleans
>
> From: pagid-bounces at list.clinimmsoc.org on behalf of Sorensen, Ricardo
> Sent: Fri 5/4/2007 10:55 AM
> To: pagid at list.clinimmsoc.org
> Subject: Re: [PAGID] diabetes and hypogammaglobulinemia
>
> Regardless of whatever molecular defect it might be or not be,
> there is a management question here. We had a girl with
> hypogammaglobulinemia and type I diabetes whose control was very
> difficult because of the recurrent infections. She did better
> better on IgIV (carefully selected not to contain sugars. She was
> lost to follow-up after Katrina, so I do not have long-term outcome
> information.
>
> Ricardo Sorensen
>
> -----Original Message-----
> From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-
> bounces at list.clinimmsoc.org] On Behalf Of Jack Bleesing
> Sent: Friday, May 04, 2007 8:56 AM
> To: pagid at list.clinimmsoc.org
> Subject: Re: [PAGID] diabetes and hypogammaglobulinemia
>
> IPEX
>
> JB
>
> ----------------------------------------------------------------------
> -----
> Jack J.H. Bleesing, M.D., Ph.D.
> Cincinnati Children's Hospital Medical Center
> Division of Hematology/Oncology
> 3333 Burnet Avenue, MLC 7015
> Cincinnati, OH 45229
> 513-636-4266 (phone)
> 513-636-3549 (fax)
> Jack.Bleesing at CCHMC.org
> http://www.cincinnatichildrens.org/immunodeficiencies/
>
>
> >>> dmvascon at usp.br 5/4/2007 9:30:46 AM >>>
> Dear Lawrence
>
> I think the main diagnostic hypothesis is common variable
> immunodeficiency, but it is necessary to rule out
> lymphoproliferative disorders and X linked lymphoproliferative
> disease (SAP deficiency), drugs (such as anticonvulsants,
> sulphasalazine, gold salts etc), transcobalamin II deficiency and
> excessive protein loss syndromes. Nowadays his immunologic
> responsiveness to protein and polysaccharide Ags shows that it is
> not necessary (now) to replace Immunoglobulins. In case of a CVID
> (and also other PIDs) there is a risk of development of other
> autoimmune diseases as well.
> I think that could be valuable to try to do the phenotypic and
> molecular diagnosis of these diseases (SAP, TACI, BAFF, ICOS, TC
> II) and exclude the use of drugs and malignant disorders such as
> lymphomas, chronic lymphocytic leukemia and thymoma (these last two
> are rare in the patients age).
>
> All the best,
>
> Dewton Vasconcelos
> University of São Paulo
>
> Jung, Lawrence escreveu: st1\:*{behavior:url(#default#ieooui) } I
> have a 15 y.o. previously healthy Caucasian male patient who was
> diagnosed to juvenile diabetes last July. While his diabetes was
> controlled he started to develop episodes of low grade fever,
> fatigue and searches for infections were never positive. IgG was
> 422 IgA 23 and IgM 26. [ all low for our lab]IgG1 - 245, IG2 *
> 30, IgG3 * 22 and IgG4 * 2. CD3- 1048, CD4 * 585, CD8- 407, CD19
> * 534. He makes normal levels of antibodies to Diphtheria, tetanus
> and various pneumococcal serotypes. Neg CMV serology. EBV VCA IgG
> + IgM * EBNA + EA -.Any suggestions as to the etiology of the
> "low" IgG's and how may it be related to the diabetes? Is he at
> risk for developing other autoimmune diseases? Parents ask
> whether IVIg should be given to prevent development of the
> latter.Thanks for your comments.Larry JungOmaha, NE
>
>
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