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

Tue Mar 28 17:04:15 EDT 2017

I think any type of neonatal infection or illness can affect the TREC levels.  We have seen low TRECs with maternal immunosuppressive use...I don't know about oseltamivir.

Regardless...if they resolved...I would say you have an answer and are done with these cases.  It will be interesting to see if any of these idiopathic T cell lymphopenia cases show up with other illness as they age, but there are ethical concerns regarding following these kids, so we typically discharge them from clinic and ask the PMD to call us with anything unusual.

Best

James

James Verbsky MD/PhD
Associate Professor of Pediatrics and Microbiology and Molecular Genetics
Medical College of Wisconsin
Milwaukee, WI  53226

________________________________
From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
Sent: Tuesday, March 28, 2017 3:07 PM
To: CIS-PIDD
Cc: Andrea Martin Nalda
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<https://urldefense.proofpoint.com/v2/url?u=http-3A__www.researchgate.net_profile_Pere-5FSoler-2DPalacin&d=DwQFAw&c=aFamLAsxMIDYjNglYHTMV0iqFn3z4pVFYPQkjgspw4Y&r=feBlMS6C4RRx18fFG8bUCQ&m=NoV2P6tuZ1B0k8_vrkZVGedqbNAThDWNMVs6-AZCblM&s=aw1m6lP5sh5mB1iI0BrmKVnHmpk032x_KkpzjHSCefA&e=>
LinkedIn: www.linkedin.com/in/pere-soler-palacin

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