[CIS PIDD] [cis-pidd] Auto-inflammatory Patient?

[CIS-PIDD]

Could be vHLH (EBV and CMV viral loads by PCR), XLP (SAP/XIAP flow) or FHL
(Perforin is ok... did you check NK degranulation with CD107a or NK
cytotoxicity)?

Boaz Palterer, MD
Department of Clinical and Experimental Medicine
Unit of Allergology and Clinical Immunology
University of Florence
email: boaz.palterer at unifi.com


On Mon, Jun 20, 2016 at 11:34 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
wrote:

> Worth considering mevalonate kinase deficiency? With all those EBV
> antibodies, does he have any blood EBV DNA?
>
>
>
> Anthony Hayward
>
>
>
> *From:* CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
> *Sent:* Monday, June 20, 2016 10:31 PM
> *To:* CIS-PIDD <cis-pidd at lyris.dundee.net>
> *Subject:* [cis-pidd] Auto-inflammatory Patient?
>
>
>
> All,
>
>
>
> We are currently caring for a 5 year old boy with fevers x 2 months and
> worsening respiratory status.
>
>
>
> He was in good health until he had a dental appointment. The next day, he developed
> fevers to 103, a right ear rash, pain and swelling of his feet, diffuse
> muscle pain, decreased energy and PO intake. He was admitted to an OSH from
> 4/6/16 - 5/5/16. Had extensive workup during the hospitalization which was
> negative for infection and auto-immunity. The pt was empirically started on
> high dose steroids (on which he improved) and discharged to home with plan
> to taper steroids slowly over time and follow up with PCP and rheumatology.
>
>
>
> Mom reports that as soon as she started to taper the steroids, he worsened
> again- with fevers and jaundice. He was then admitted to our hospital and
> found to have transaminitis, ascites, peritonitis, pancreatitis, persistent
> fevers, tachycardia, and tachypnea .
>
>
>
> Yesterday, he was transferred to the PICU for continued fevers and
> respiratory failure requiring intubation. So far, no source has been found
> for fevers and respiratory distress.
>
>
>
> Her work-up has included:
>
>
>
> Ferritin- highest of 1133 on 4/20 now down to 333
>
> CBC- just slight normocytic anemia
>
> AST high of 1368 on 5/2 now down to 482
>
> ALT high of 743 on 5/2 now down to 104
>
> GGT high of 1431 on 5/20 now down to 394
>
> LDH high of 707 on 5/2,
>
> Triglycerides- high of 514 on 5/16, now down to 161
>
> EBV ab to nuclear Ag IGG 4/7: >600 (high)
>
> EBV ab to viral capsid ag IGG 4/7: 291 (high)
>
> EBV ab to viral capsid ag IGM 4/7: 12.4
>
> Viral respiratory panel- negative
>
> ANA- negative
>
> ESR- high of 78 on 4/28 now down to 68
>
> C3 : 124
>
> C4: 22.6
>
> IgA: 257 (high)
>
> IgG: 1160 (high)
>
> IgM: 114 (nml)
>
> Lymphocyte subsets: normal except low CD56 cells
>
> Soluble IL-2R: 1462
>
> Perforin/granzyme- normal
>
> Glycogen storage disease work-up- normal
>
> BAL- negative
>
> Chest CT- Bilateral extensive groundglass/consolidation which is most
> characteristic for diffuse alveolar damage/acute lung injury
>
>
>
> Abdomen CT- Enlarged, hypoattenuating liver. Interval decrease in now
> moderate volume ascites, partially surrounded by thick/enhancing walls
> compatible with organizing, loculated fluid. Superimposed infection is not
> excluded.
>
>
> Edematous appearing pancreas with normal enhancement relative to the liver
> and spleen.
>
>
>
> Blood/CSF/urine cxs- negative
>
>
>
> He is currently on solumedrol 1mg/kg Q12 and his condition is continuing
> to deteriorate requiring more oxygen and ventilator support.
>
>
>
> A cytokine panel has been sent out and is pending.
>
>
>
> Any other ideas or considerations would be greatly appreciated.
>
>
>
> Thanks.
>
>
>
> -Evan
>
>
>
>
>
> *Evan Shereck, MD*
>
> Associate Professor of Pediatrics
>
> Director, Pediatric Hematology/Oncology Fellowship
>
> Block Co-Director, Blood and Host Defense
>
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