[CIS PIDD] [cis-pidd] newborn with probable SCID diagnosis

[CIS-PIDD]

Dear all,

We have a 17-day-old female patient, born to non consanguineous parents at
35 weeks of gestation, older male sibling is healthy.
She was referred to our center with leucopenia, severe neutropenia (ANC
320/ul) and severe thrombocytopenia (platelets = 9000/ul) requiring
multiple transfusions. No fever. At physical examination no
lymphadenopathy, no hepatosplenomegaly.

Work up to date:

*- CD3 cells = 531*, *CD4 cells = 371, CD8 cells = 156*
*- CD19 cells = 16,* NK cells = 318

- Myelogram shows *hemophagocytosis*. Triglycerides and fibrinogen values
in normal range.
- EBV viral load is negative. HIV is negative.

T-B-NK+ SCID is being highly considered in our diagnosis. Unfortunately,
there is no available genetic testing in our center to decide a prompt HSCT.

Looking forward to your help and/or suggestions.

Joel Calero
Immunology Fellow
Allergy and Immunology Division
Hospital Nacional Edgardo Rebagliati Martins
Lima, Peru.

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=4360215
or send a blank email to leave-4360215-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20170505/9f789d8f/attachment-0001.html>