[PAGID] diabetes and hypogammaglobulinemia

[Christine Seroogy]

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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