[CIS PIDD] ? SCID newborn

[Church, Joseph]

Colleagues:

I will be seeing a patient who was identified by our SCID newborn screening program.

Currently 4 weeks of age, 33w gestational age twin B (likely not identical).  No report of rash, adenopathy or organomegaly.


*         Low TREC screen (4 copies vs normal of >25)

*         CBC:
            Normal hematocrit and hemoglobin.
            Normal platelet count.
           WBC 1,400/mcL - 34% neutrophils, 6% lymphocytes, 20% monocytes, 34% eosinophils.

*         Flow cytometry pending.

Since the absolute lymphocyte count is so low (84/mcL), I don't think the flow will help much.

Although reticular dysgenesis is associated with normal red blood cells and platelets, I don't think that the patient's monocyte and eosinophil counts are consistent with this diagnosis.

Can ADA deficiency present like this?

What other PIDD(s) might present with both profound lymphopenia and neutropenia in a female?

Thank you for your help.

Joe Church
Children's Hospital Los Angeles





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