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

[CIS-PIDD]

Cecilia Korol and some of the other folks at the NIH might be interested in your GBS case.

From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Date: Tuesday, March 28, 2017 at 3:07 PM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Cc: Andrea Martin Nalda <andmartin at vhebron.net<mailto:andmartin at vhebron.net>>
Subject: [cis-pidd] SCID NBS in Catalonia

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________________________________
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 toStreptococcous agalactiaesepsis 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<mailto:psoler at vhebron.net>  /  34660psp at comb.cat<mailto: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


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