Fwd: [PAGID] patient

[Dewton de Moraes Vasconcelos]

Dear Chris

In a patient with these clinical features I would think about PNP 
deficiency, which usually present autoimmune cytopenias and neuropathy 
and could be screened by uric acid quantification, as well as CD132 
(gamma common chain) and Jak3 deficiencies. The normal titers of 
antibodies are more suggestive of PNP deficiency.
The low proliferation for mitogens and antigens could be tested 
correcting for the number of CD4+ cells in cell culture. We usually do 
that in order to evaluate primary CD4 lymphocytopenia patients.

All the best,

Dewton

Christine Seroogy escreveu:

> Dear Colleagues,
>
> I have some additional information on the patient I presented  
> recently (see below).  His platelet count and hemoglobin continues to  
> steadily normalize.  He remains profoundly lymphopenic and I now have  
> some functional studies back.  His in vitro proliferation to mitogen  
> and antigen is profoundly low (either reflection of low input or  
> intrinsic defect or both).  Measurement of functional antibodies to  
> multiple vaccine antigens demonstrated excellent titers for all  
> measured.  This included VZV which I failed to mention before he had  
> one episode of shingles in 2/05 otherwise no history of infections.   
> His platelet size by microscopy looked entirely normal.  His  
> examination was notable for complete absence of palpable or visible  
> lymphoid tissue.
>
> I have him on PCP and MAC prophylaxis.  Again, I welcome any comments  
> or opinions.  Thank you, Chris
>
>>>
>>>
>>>
>>>> From: Christine Seroogy <cmseroogy at wisc.edu>
>>>> Date: October 20, 2005 8:40:53 AM CDT
>>>> To: pagid at clinimmsoc.org
>>>> Subject: [PAGID] patient
>>>> Reply-To: pagid at clinimmsoc.org
>>>>
>>>> Dear Colleagues,
>>>>
>>>> I was asked to comment on the possibility of an underlying  
>>>> immunodeficiency by one of our hematologists and would like any  
>>>> opinions.
>>>>
>>>> This is a previously healthy 8 y/o boy with onset of bruising 2  
>>>> months ago which prompted referral to the hematologist.   
>>>> Peripheral blood revealed thrombocytopenia, anemia, and  
>>>> lymphopenia. Neutrophil and monocyte numbers normal. His bone  
>>>> marrow at the time was hypocellular with rare megas, no blasts,  
>>>> normal cytogenetics, absence of fibrosis.  Since then his  platelet 
>>>> count has stabilized at 30K, hemoglobin 11.1, and his  ALC remains 
>>>> very low (339).  Flow on his peripheral blood:   Absolute CD4 26, 
>>>> Absolute CD8 69, Absolute NK 20, normal CD19  numbers.  
>>>> Quantitative Igs normal, HIV neg., parvo/CMV/EBV neg,  ANA neg.  
>>>> PNH eval. neg and Fanconi's pending, T cell function  pending, 
>>>> functional antibody levels pending.
>>>>
>>>> Thank you for your consideration and any thoughts.
>>>>
>>>>
>>>> Chris Seroogy, M.D.
>>>> Assistant Professor
>>>> Dept. of Pediatrics
>>>> Mail:  H4/474 CSC, Mailstop 4108
>>>> Shipping:  H4/431 CSC, Mailstop 4108
>>>> 600 Highland Ave.
>>>> Madison, WI  53792
>>>> phone: 608- 263-2652
>>>> fax: 608-265-0164
>>>>
>>>>
>>>>
>>>
>>>
>>
>>
>
>
>

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