[CIS PIDD] [cis-pidd] Puzzling Case
Church, Joseph
JChurch at chla.usc.edu
Wed Jun 19 11:18:23 EDT 2013
These were tested. Unfortunately, an 'interfering' substance in the patients plasma resulted in interpretable results. JC
-----Original Message-----
From: Maria Kanariou [mailto:mkanariou at hol.gr]
Sent: Wednesday, June 19, 2013 8:03 AM
To: CIS-PIDD
Subject: RE: [cis-pidd] Puzzling Case
I propose to check for IL-1beta, Il-6, TNF-alpha & SAA in order to exclude CAPS, although fever is not mentioned.
Maria
__________________________
Maria G. Kanariou, MD
Consultant in Paediatric Immunology
Director of the Dept. of Immunology-Histocompatibility
Specific Center & Referral Center for
Primary Immunodeficiencies - Paediatric Immunology
"Aghia Sophia" Children's Hospital
11527, Athens, Greece
Tel.: +30-2132013766, Fax: +30-2132013293
Emails: m.kanariou at gmail.com; m.kanariou at paidon-agiasofia.gr
http://www.paed-anosia.gr
-----Original Message-----
From: Sullivan, Kathleen [mailto:sullivak at mail.med.upenn.edu]
Sent: Wednesday, June 19, 2013 1:26 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] Puzzling Case
C3 deficiency
Almost assuredly
Kate
On Jun 18, 2013, at 6:53 PM, Church, Joseph wrote:
> Colleagues:
>
> Rheumatology referred a now 6 month infant girl who since 5 weeks of
> age
has had a persistent, shifting, generalized rash characterized by irregular reddish-brown plaques (see attached picture) that are completely non-pruritic. A biopsy showed "urticarial vasculitis." A brief course of prednisone resulted in transient complete clearing of the rash. The infant is growing and developing normally; she has had no serious infections; her exam is normal except for the rash; there are no joint findings. Labs:
>
> CH50 and AH50 were '0' (repeatedly).
> All classical pathway component tested were low.
> RF, CIC, anti-C1q all positive
> ANA, anti-dsDNA, SSA and SSB all negative (mom also).
> UA normal
> Extensive search for infectious agents has been unrevealing.
> CBC shows neutropenia with positive anti-neutrophil antibody, and
anemia-Coombs pending.
>
> Other than neonatal lupus any thoughts regarding diagnostic
> interventions
and possible therapy (?IVIG).
>
> Joe Church
> Children's Hospital Los Angeles
>
>
>
>
>
>
>
>
>
>
>
>
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