[PAGID] A possible SCID variant?

[Lisa Kobrynski, MD, MPH]

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)