[CIS PIDD] [cis-pidd] VS: Puzzling Case

[Seppänen Mikko]

Dear Joseph,

since anti-C1q is positive (high titers?) and biopsy is urticarial vasculitis (the rash does stay put in one place for days, right?), if no additional CP- or AP autoantibodies/deficiencies (I would also test for C1r-, C1s-, total C2-defs) are found, sounds like "just" HUVS/hypocomplementemic urticaria vasulitis to an adult physician, though I definitely have never ever heard/read of such a young patient (reason why it makes one think even of ultrarare early CP factor defs as well as rare AP defs, especially since she has other autoantibodies as well= RF, anti-neutrophil)? Has anyone in the forum had/seen/heard of such young HUVS-patients?

Or what are her Treg levels? Exome seq would give You all C gene sequences and and at the same time one could look for possible new AI PIDD? Nothing to suggest IPEX, IPEX-like or APECED? Endocrine autoantibodies? Testing each of the above-mentioned genes individually would be much more costly than exome/genome? If I understood correctly, she might have Evans, and the chance to find PIDD as a cause at her age would thus be high...

Adult HUVS patients are very hard to treat satisfactorily, and COPD-like severe lung damage develops insidiously though takes years to develop, and I am not aware of any larger series on success of Lung Tx (I once posted a Q of this to the forum, no answers) in such cases. So if it turns out to be any sort of HUVS, with all available means I definitely would follow her lung functions (challenging at her age?).

If it turns out to be HUVS+ an AP/CP defect and severe lung damage does develop... lung+liver Tx????? Please keep us posted on what was eventually found.

mikko
Mikko Seppänen, MD PhD
Helsinki, Finland

-----Alkuperäinen viesti-----
Lähettäjä: Church, Joseph [mailto:JChurch at chla.usc.edu] 
Lähetetty: 19. kesäkuuta 2013 1:54
Vastaanottaja: CIS-PIDD
Aihe: [cis-pidd] Puzzling Case

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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