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

Thu Aug 11 04:09:56 EDT 2016

Dear Mariela,

In addition to the comments from Aisha Elmarsafy, I would suggest to check the mother’s CMV status: if positive, breastfeeding will constitute the risk of transmitting CMV to the child, which quite often causes a lot of problems in SCID patients. Thus, if infant formular was available, I would suggest to feed the child with formula until you know that mum is CMV-negative (as long as the results are pending she could still pump the breastmilk so as not to inadvertedly loose the possibility of breastfeeding later if she turns out to be CMV-negative or the child turns out to not have SCID).

Yours sincerely,

Jan

--
Dr. Jan Rohr

Center for Chronic Immunodeficiency (CCI)
University Medical Center Freiburg
Breisacher Str. 115
79106 Freiburg
Germany

phone:    +49 (0)761 203-6550
fax:         +49 (0)761 270-45010
e-mail:         jan.rohr at uniklinik-freiburg.de<mailto:jan.rohr at uniklinik-freiburg.de>

http://www.sfb1160.uni-freiburg.de/
http://www.uniklinik-freiburg.de/cci/live/index.en.html

Von: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Antworten an: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Datum: Thursday 11 August 2016 09:44
An: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Betreff: Re: [cis-pidd] newborn with possible CID

Dear Mariela

I understand your worry. There is a 50% chance that the new baby suffers from X-SCID (common gamma chain deficiency).

Make sure that no BCG nor OPV is given to the baby until SCID possibility has been ruled out.

Perform a Blood count (may or may not show absolute lymphopenia) and immunophenotyping of peripheral blood sample as soon as you can get it (may be within 48 hours or so from time of delivery).

If you have low CD3, CD4, NK cells with normal to elevated CD19, your baby is highly suspected to suffer X-SCID.

In my limited experience with difficult facilities as yours, I would start at this point looking for a matched unrelated donor for HSCT. You will not find in your case a matched related donor.

You may start prophylaxis with cotrimoxazole-sulfa and IVIG + withhold all live attenuated vaccines (actually all vaccines) and avoid blood transfusions and look for a donor to perform your BMT soon.

Let us hope however that you end up with an unaffected boy (50% chance).

Best regards

Aisha Elmarsafy

Professor of Pediatrics - Primary Immunodeficiency Unit

Faculty of Medicine - Cairo University - Egypt

________________________________
From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Sent: Wednesday, August 10, 2016 4:53 PM
To: CIS-PIDD
Subject: [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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