[PAGID] A possible SCID variant?

[Luigi Notarangelo]

Dear Lisa:

we have seen several cases of patients who resembled Omenn, but had B cells 
and/or did not show eosinophilia.
However, their clinical course tends to be severe, and -based on this and 
on the immunological phenotype- we usually perform BMT in such cases,
the very same way we do for Omenns.
If you are interested we test for ZAP-70, however I must say that none of 
our cases (some of which had very low CD8) was Zap70-deficient.
Have you tested for the CD4 clonality? Is this an oligoclonal population (I 
would imagine so)? Do they co-express CD45R0 as opposed to RA?

Sincerely

Luigi D. Notarangelo
Department of Pediatrics
University of Brescia
Spedali Civili
25123 Brescia
Italy


At 17.30 07/07/2005, Lisa Kobrynski, MD, MPH wrote:
>I have a patient with a diagnostic dilemma -
>This girl presented at 3 months of age with severe erythroderma/eczema 
>starting
>at 1 month of age, GE reflux, at episodes of fever.  She had a skin biopsy at
>another institution that showed a spongiotic dermatitis, with a few eos., she
>has been diagnosed 2 weeks prior to admission with pneumonia and treated as an
>outpatient.  At that time she was noted to have some hepato-splenomegaly and
>diffuse adenopathy.  She developed acute respiratory distress and required 
>BiPAP
>and had a high O2 requirement.  CXR showed diffuse intersitial infiltrates
>consistent with PCP. She was treated with IV Bactrim had improved.
>
>She has had a normal differential and is not lymphopenic. THere was no
>eosinophilia. However, her CD8% is low at 7% with 285 abs cells.  Mitogen
>stimulation was poor to PHA, absent to ConA and fair to PWM. She did not make
>isohemagglutinins (she is type O). IgG was 168, IgA 78, IgM 53 and IgE 
>208. HIV
>PCR negative.
>She has improved and is off O2 now.  Skin is much better with topical 
>therapy.
>Reflux is still a problem and weight gain has improved.
>
>Initially we thought of Omenn's, but she has not had eosinophilia and has 
>normal
>B cell numbers.  We have also considered a ZAP70 deficiency.
>Is her CD8 cell count too high for this diagnosis?  If we wanted to 
>measure the
>protein or sequence the gene - who is doing this?
>Other thoughts?
>
>
>Thanks
>
>
>Lisa Kobrynski, MD, MPH
>Assistant Professor of Pediatrics
>Division of Allergy and Immunology
>Emory University
>404-727-3575
>404-727-5045 (fax)
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