[CIS PIDD] [cis-pidd] SCID NBS in Catalonia

[CIS-PIDD]

Use of immunosuppressive agents in the mother could explain the low TRECs which normalized later in both the cases. Leucopenia is also a documented side effect of oseltamivir.
Rgds,

Amit Rawat
 --Dr. Amit Rawat MD (Pathology) PDCC (Laboratory Immunology) PDCC (Nephropathology) MAMS
Additional Professor of Pediatric Allergy and Immunology, Paediatric Allergy Immunology Unit,Department of Paediatrics, Advanced Paediatric Centre,Postgraduate Institute of Medical Education & Researchand Investigator, ICMR Centre for Advanced Research in Primary Immunodeficiency Diseases Sector 12, Chandigarh 160012. Phone: +91-172-2755682 (Off), +91-99-14208486 (Mob) Email: rawatamit at yahoo.com, amitrawat2002 at rediffmail.com

      From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
 To: CIS-PIDD <cis-pidd at lyris.dundee.net> 
Cc: Andrea Martin Nalda <andmartin at vhebron.net>
 Sent: Wednesday, March 29, 2017 1:38 AM
 Subject: [cis-pidd] SCID NBS in Catalonia
   
Dear all, we have already started in January 2017 with our National program of NBS for SCID in Catalonia. We are so happy with it and we have had our first positive cases (no SCID cxases yet but already 22q11del, congenital chylothorax, ..), but there were two "false positive" results and I'd like to have your inputs about them. 

- Case 1: term newborn  (40 wk) with low TREC levels at 48h of life (7-10-11 copies/µL). The morning NBS was performed, the newborn was admitted to the neonatal intensive care unit due to Streptococcous agalactiae sepsis and meningitis. Leucopenia and lymphopenia were detected at that point but they were not present in the previous blood tests performed during the 1st and 2nd day of life and TLC returned to normal thereafter. Clinical outcome was excellent and all immunological studies (blood count, immunoglobulins, immunophenotype and lymphoproliferative assay) were normal. No syndromic features. TRECs determination was repeated at 2 months of age with normal result = 128-155 copies/µL. Any experience of low TREC levels during sepsis? - Case 2: newborn of 40 weeks of gestational age with low TREC levels at 48h of life (8-10-11 copies/µL).  Her mother had Influenza A infection peripartum and received oseltamivir. However, flu was ruled out in the newborn. Once again, all immunological studies (blood count, immunoglobulins, immunophenotype and lymphoproliferative assay) were normal. No syndromic features. TRECs determination was repeated at 2 months of age with normal result = 267 y 153 copies/µL. Any experience with low TREC levels with maternal viral infections? As far as I know, it would make sense since mother-to-child transmission of CMV or HIV may decrease TREC levels.
Best regards and many thanks for your help,

P.

Pere Soler Palacín, MD, PhD, MSc.
Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron.
Vall d'Hebron Research Institute (VHIR)  
Assistant Professor. Universitat Autònoma de Barcelona (UAB)     
Director of the Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies (Barcelona)                                                 
Pg. de la Vall d'Hebron, 119-129
08035 Barcelona. Spain.
Tel. 0034934893140  /  Fax 0034934893039
psoler at vhebron.net  /  34660psp at comb.cat
Web: www.upiip.com
My ORCID
ResearchGate: http://www.researchgate.net/profile/Pere_Soler-Palacin
LinkedIn: www.linkedin.com/in/pere-soler-palacin
 
 
No imprimir aquest correu ajudarà a preservar el medi ambient.

Si vostè no és el destinatari del missatge, o l'ha rebut per error, si us plau notifiqui-ho al remitent i destrueixi el missatge amb tot el seu contingut. Està prohibida la distribució no autoritzada del contingut d'aquest missatge.

No imprimir este correo ayudará a preservar el medio ambiente.
Si usted no es el destinatario del mensaje, o lo ha recibido por error, notifíquelo por favor al remitente y destruya el mensaje con todo su contenido. Está prohibida la distribución no autorizada del contenido de este mensaje.

 ---  You are currently subscribed to cis-pidd as: rawatamit at yahoo.com.  To unsubscribe click here: http://cts.dundee.net/u?id=104312912.f40fdd03d83a39bdd576158d9bc74830&n=T&l=cis-pidd&o=4290938  (It may be necessary to cut and paste the above URL if the line is broken)  or send a blank email to leave-4290938-104312912.f40fdd03d83a39bdd576158d9bc74830 at lyris.dundee.net

   
---
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=4291878
or send a blank email to leave-4291878-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20170329/5daae6e5/attachment-0001.html>