[CIS PIDD] [cis-pidd] [CIS-PIDD] newborn with possible CID

Thu Aug 11 12:45:30 EDT 2016

Dear Mariela,
Chromosome analysis can be an alternative to mitogen assay in your
situation. If they see plenty of metaphase cells it is unlikely SCID.
Yesim

Yesim Yilmaz Demirdag
Columbia University Medical Center

On Thu, Aug 11, 2016 at 9:23 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
wrote:

> With regard to interpretation of the PHA response on Quantiferon gold: we
> have seen maternal engraftment in an XSCID patient cause normal IFN-gamma
> production in response to staph enterotoxin-B on an elispot assay.
>
>
> Best,
>
> Mike
>
>
> *Michael D. Keller, MD*
>
> Assistant Professor, Division of Allergy / Immunology
>
> Center for Cancer and Immunology Research
>
> Jeffrey Modell Diagnostic and Research Center for
>
> Primary Immunodeficiency Disorders
>
> Children's National Health System
>
> 111 Michigan Ave NW, M7745A
>
> Washington, DC 20010
>
> Clinic: 202.476.3016
>
> Office: 202.476.5843
>
> Fax: 202.476.2280
>
> www.ChildrensNational.org
>
>
> ------------------------------
> *From:* CIS-PIDD [cis-pidd at lists.clinimmsoc.org]
> *Sent:* Thursday, August 11, 2016 9:19 AM
>
> *To:* CIS-PIDD
> *Subject:* RE:[cis-pidd] [CIS-PIDD] newborn with possible CID
>
> It contains a PHA control, we toss out the TB result.
>
>
>
> Tony Infante
>
> *From:* CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
> *Sent:* Thursday, August 11, 2016 8:18 AM
> *To:* CIS-PIDD
> *Subject:* RE:[cis-pidd] [CIS-PIDD] newborn with possible CID
>
>
>
> Quantiferon might not work in a newborn unexposed to TB and not immunized
> with BCG.
>
> -R
>
>
>
>
>
> --
>
> Rob Sokolic, MD
>
> Medical Officer
>
> Office of Cellular, Tissue and Gene Therapies
>
> Center for Biologics Evaluation and Research
>
> Food and Drug Administration
>
> White Oak Building 71, Room 5261
>
> 10903 New Hampshire Ave
>
> Silver Spring, MD 20993-0002
>
> Robert.Sokolic at fda.hhs.gov
>
> (240) 402-5564
>
> FAX: (301) 595-1305
>
>
>
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> This communication does not constitute a written advisory opinion under 21
> CFR 10.85, but rather is an informal communication under 21 CFR 10.85(k)
> which represents my best judgment at this time, but does not necessarily
> represent the formal position of FDA, and does not bind or otherwise
> obligate or commit the agency to the views expressed.
>
>
>
> *From:* CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org
> <cis-pidd at lists.clinimmsoc.org>]
> *Sent:* Thursday, August 11, 2016 9:05 AM
> *To:* CIS-PIDD
> *Subject:* RE: [cis-pidd] newborn with possible CID
>
>
>
> We have been using Quantiferon-Gold as a “mini” mitogen stimulation test
> in some cases.
>
>
>
> Tony Infante
>
> *From:* CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org
> <cis-pidd at lists.clinimmsoc.org>]
> *Sent:* Thursday, August 11, 2016 3:40 AM
> *To:* CIS-PIDD
> *Subject:* [BULK] AW: [cis-pidd] newborn with possible CID
>
>
>
> Dear Mariela,
>
>
>
> As mentioned before, you may intend to test a neonatal heel stick sample
> on a regular Guthrie card for TREC+KREC copy number analysis ('SCID newborn
> screening'). This would go independent from post-partum CBC and flow
> analyses. If the TREC+KREC test is of interest to you, we`d be happy to run
> your sample.
>
>
>
> BR, Stephan
>
>
>
>
>
> ************************************************************
> ***************
>
> Stephan Borte, MD, PhD
>
> Associate docent  -  Div. of Clinical Immunology
>
> Karolinska University Hospital Huddinge
>
>
>
> Clinical Research Director
>
> Jeffrey Modell Diagnostic and Research Center for Primary
>
> Immunodeficiencies at the Municipal Hospital St. Georg Leipzig
>
> Delitzscher Strasse 141
>
> D-04129 Leipzig
>
> Germany
>
>
>
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> ------------------------------
>
> *Von:* CIS-PIDD [cis-pidd at lists.clinimmsoc.org]
> *Gesendet:* Mittwoch, 10. August 2016 18:53
> *An:* CIS-PIDD
> *Betreff:* [cis-pidd] newborn with possible CID
>
> Dear Colleagues and Mentors,
>
>
>
> I have a 37 years old healthy woman, who is almost 39 weeks pregnant,
> whose product is a male with high probability to have Combined
> Immunodeficiency. The pregnant had three previous pregnancies, two of them
> were men who died at 8 months and 11 months respectively, with probable
> CID.
>
> The first baby born in 2000, at 36 weeks gestation, male. He received BCG,
> oral polio, DTP vaccines.  From 6 months old, the baby had several
> hospitalizations for pneumonia, chronic diarrhea, intestinal perforation
> with peritonitis, being treated surgically. He died at 8 months of age for
> sepsis.
>
> The second baby was born in 2003, at 32 weeks gestation, male. He received
> BCG, oral polio, DTP, HBV vaccines. From 4 months old, had chronic diarrhea
> and Pneumocystis jiroveci pneumonia. At 6 months of age was diagnosed with
> tuberculosis and CMV infection. He died at 11 months of age. He had Lymphocyte
> count: 1200 cells/mm3, CD4+: 3 cells/mm3, CD8+: 8 cells/mm3 and negative
> HIV.
>
> The pregnant has a 8 years old healthy daughter, product from a second
> relationship.  Now, her current gestation is product from a
> third relationship, both parents healthy. No consanguinity with current
> partner or past partners.
>
> This would be the first case of this feature in which could perform a bone
> marrow transplant early before it starts to suffer infections. Our hospital
> has experience in performing bone marrow transplant but not for PID, and we
> are also evaluating the possibility.
>
>
> Given the posibility of having a newborn with SCID in two days, I am very
> interested in hearing about all the recommendations for the management of
> this patient (such as ideal time for sampling, cordon blood or peripherical
> blood….).  At the hospital, we can check T, B, NK, CD4+, CD8+ cell
> numbers , but not lymphocyte mitogen stimulation assays to check
> proliferation to PHA, PWM, ConA. On this last point, let me know if there
> is any possibility to conduct in your lab this proliferation assay or some
> other assay that is in its possibility.
>
> I would appreciate very much your advice and support.
>
>
>
> Thanks,
>
>
>
> Mariela
>
>
>
>
>
> Mariela Milla Pimentel MD
>
> Clinic Immunology and Allergy Service
>
> Edgardo Rebagliati Hospital
>
> Lima Perú
>
>
>
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