[PAGID] Unusual SCID/CID patient

[Kathleen E. Sullivan]

If the cerebellum is small, think of Hoyeraal Hreiderson.
Kate
Kathleen E. Sullivan MD PhD
Chief, Division of Allergy and Immunology
Professor of Pediatrics
The Children's Hospital of Philadelphia
(p) 215-590-1697
(f) 267-426-0363


On Oct 12, 2007, at 4:48 PM, MacGinnitie, Andrew wrote:


> We have an interesting CID/SCID patient (where does the line  

> between them fall, anyway)

>

>

> 20 mo old female with history of poor growth and developmental  

> delay with respiratory failure due to PCP pneumonia.  .  Symmetric  

> failure to thrive with head circumference, height, weight all  

> proportionally down.

>

>

> One previous pneumonia 2 months previously.  Both admission and  

> follow up CXRs from that visit have pattern suspicious for PCP  

> (improved on steroids given for question of wheeze)

>

>

> Labs include persistent lymphopenia (ALC 800 on admission) down to  

> 300 2 days later when B/T cell subsets showed CD4 150, CD8 130,  

> almost no B or NK cells.

>

> Staining for CD3/CD4/CD45RA/CD62L showed >50% of CD3/CD4 cells with  

> naïve phenotype.

>

> Proliferation to mitogens 0.

>

> ADA/PNP sent to Duke and normal!

>

> Initial IgG 400 with good response to diphtheria and tetanus.

>

> 22q11 negative and no other typical features of DiGeorge

>

>

> Our sense has been that the late presentation and normalish IgG/ 

> good specific antibody response makes classic SCID unlikely.  We  

> were surprised PNP was normal.

>

>

> We’ve considered both CD3 defects and DNA recombination defects  

> (Ligase IV, Cernunnos, etc), the latter would go with her  

> developmental delay/microcephaly (not dysmorphic that we can  

> appreciate).

>

>

> Any other ideas on workup or possible defects?  Is there somewhere  

> we can get testing for radiosensitivity?

>

>

> We are repeating mitogens while we go ahead with transplant work-up

>

>

> Thanks

>

>

> Andy

>

>

> Andrew J. MacGinnitie MD PhD

>

> Assistant Professor of Pediatrics

>

> Division of Pulmonary Medicine, Allergy and Immunology

>

> Children's Hospital of Pittsburgh

>

> 3705 Fifth Ave, Pittsburgh, PA 15213

>

> andrew.macginnitie at chp.edu

>

> 412/692-8903 (office)

>

> 412/692-8499 (fax)

>

>

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