[PAGID] diabetes and hypogammaglobulinemia

[Jung, Lawrence]

Thanks for all your responses.  

 

Despite the low Ig's, I was intrigued by his adequate antibody response including Ab response to EBV.    There was no diarrheal disorder to suggest GI loss and hypogammaglobulin seen in nephrotic syndrome is usually IgG +/- IgA and not usually IgM.   U/A was normal but I will check again.

 

I didn't think IPEX likely as he is asymptomatic until age 16.  The DN T cells are not elevated so ALPS is less likely.   Furthermore, hypogammaglobulinemia not a common features in these disorders. 

 

Obviously CVID is a concern.   But I am not in a hurry to treat him with IVIg but will monitor his Ig levels and Ab titers.   

 

I would like to check his response to neoantigens.  Unfortunately, I don't have a ready access for the phage 174 that Hans Ochs has.  Would Pnueumovax be adequate, looking for response to antigens that he does not have a prior titer?  Any other suggestions?

 

If I can demonstrate that he is unable to adequate to the neoantigen, then I would go ahead with genetic testing for the various entities.

 

The only other concern that I have is whether this may represent a variant of X-LPS.  There was a history of significant cervical lymphadenopathy a few months prior his onset on JDM.  It resolved without complications.  However, I am not aware that JDM as a clinical manifestation of XLPS.  Thoughts?

 

Thanks

 

Larry Jung

 

 

 

________________________________

From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Dewton
Sent: Friday, May 04, 2007 8:31 AM
To: pagid at list.clinimmsoc.org
Subject: Re: [PAGID] diabetes and hypogammaglobulinemia

 

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 patient´s age).

All the best,

Dewton Vasconcelos
University of São Paulo

Jung, Lawrence escreveu: 

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 Jung

Omaha, NE  

 

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