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

[CIS-PIDD]

Dear Colleaguesand Mentors,
I have a 37 years old healthywoman, who is almost 39 weeks pregnant, whose product is a malewith high probability to have Combined Immunodeficiency. The pregnant had threeprevious pregnancies, two of them were men who died at 8 months and 11 monthsrespectively, 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 severalhospitalizations for pneumonia, chronic diarrhea, intestinal perforation withperitonitis, 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 receivedBCG, oral polio, DTP, HBV vaccines. From 4 months old, had chronic diarrhea andPneumocystis jiroveci pneumonia. At 6 months of age was diagnosed withtuberculosis 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 healthydaughter, product from a second relationship.  Now, her current gestationis product from a third relationship, both parents healthy. Noconsanguinity with current partner or past partners.

This would be the first case of this feature inwhich could perform a bone marrow transplant early before it starts to sufferinfections. Our hospital has experience in performing bone marrow transplantbut not for PID, and we are also evaluating the possibility.



Given the posibility of having a newborn withSCID in two days, I am very interested in hearing about all the recommendationsfor the management of this patient (such as ideal time for sampling, cordonblood or peripherical blood….).  At the hospital, we can check T,B, NK, CD4+, CD8+ cell numbers , but not lymphocyte mitogenstimulation 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 proliferationassay or some other assay that is in its possibility.

I would appreciate very much your advice andsupport.

 

Thanks,

 

Mariela

 

 

Mariela Milla Pimentel MD

ClinicImmunology and Allergy Service

EdgardoRebagliati Hospital

Lima Perú


 

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