[CIS PIDD] [cis-pidd] Jacobsen syndrome

[CIS-PIDD]

Hi Lisa,
I personally follow four kids with Jacobson syndrome and we have one or two others followed in the section at TCH.  They are all too old to have had TREC newborn screens, so I can't comment on what their T cells were like in infancy, but none of them currently have significant T cell abnormalities.
All of ours have essentially normal total B cell numbers with some minor abnormalities in their B cell profiles. I have two of them on IVIG and a third I am trying to convince, all due to mild to moderate hypogam with poor retention of s pneumo titers associated with recurrent sinopulmonary and skin infections.
I would be concerned that there is something else going on besides the Jacobson. Two of my patients are siblings with a larger chromosome 11 deletion that causes a combined Jacobson and Beckwith-Weidimen phenotype.  Could your patient have something similar? Otherwise I would recommend doing some looking for other causes of T cell lymphopenia.
Best,
Sarah

Sarah K. Nicholas, MD
Director, Solid Organ Transplant Immunology
Section of Immunology, Allergy, and Rheumatology
Baylor College of Medicine
Texas Children's Hospital

On Jul 7, 2017, at 9:45 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

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I am looking for some tips on followup of an infant with Jacobsen syndrome who was identified with T cell lymphopenia on newborn screening for SCID.


Her original CD4 count was around 350, with normal mitogen functions.  We did not put her on prophylaxis and have maintained a normal immunization schedule and she has been well.  Slow weight gain, but improved now with NG feeds.  We repeated her lymphocyte phenotyping this week (she is now 8 months) and her absolute CD4 count is 277.  As expected with a thymic defect her B and NK cell # are higher than normal.  She has mild thrombocytopenia (plt around 90,000).


As she nears her first birthday and would be due for her MMR and varicella vaccines, would there be any risk to her in getting these live attenuated viral vaccines?


(We have a fairly low threshold with our DiGeorge syndrome patients and will usually go ahead as long as the CD4 count is between 400-500 - but I don't know if this translates to other syndromes)


Thanks

Lisa



Lisa Kobrynski, MD, MPH
Associate Professor of Pediatrics
Marcus Professor of Immunology
Section, Allergy/Immunology

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