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

[CIS-PIDD]

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




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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

Notice of confidentiality – The information contained in this e-mail is confidential and only for the intended recipient identified above. If you are not the intended recipient, any use of this communication is unlawful. If you have received this transmission in error, please immediately notify the sender and destroy the original message. Thank you.
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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.<https://email.ki.se/owa/UrlBlockedError.aspx>
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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