[CIS PIDD] [cis-pidd] AW: extremely high IgA with immune dysregulation

[CIS-PIDD]

Dear Megan,

the history of your patient reminds me of one of ours: 9 year old boy with elevated IgA, who was clinically well but had chronic inflammation for several months presenting as fever of unknown origin. Extensive work-up for infections, immunodeficiency, autoinflammatory, rheumatological and hematological diseases initially only revealed mildly decreased counts of B- and NK cells (and IgA being polyclonal). Initial bone marrow biopsy including cytogenetic studies was normal (so was GATA2-sequencing). Nevertheless, after a year MDS RAEB was found on a repeat bone marrow. So even though the presentation of our patient was slightly different from yours, you might want to consider MDS as a differential diagnosis as it can be associated with immune dysregulation.

Regards,

Jan

--
Dr. Jan Rohr

Center for Chronic Immunodeficiency (CCI)
Medical Center - University of Freiburg
Breisacher Str. 117
79106 Freiburg
Germany

phone (office): +49 (0)761 270-43090
phone (lab):     +49 (0)761 203-6550
fax:                  +49 (0)761 270-45010
e-mail:              jan.rohr at uniklinik-freiburg.de<mailto:jan.rohr at uniklinik-freiburg.de>

http://www.uniklinik-freiburg.de/cci/live/index.en.html



Von: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Gesendet: Dienstag, 9. August 2016 16:32
An: CIS-PIDD
Betreff: [cis-pidd] extremely high IgA with immune dysregulation

Hi Everyone,

I have a 3yo male that I have followed for suspected immune dysregulation syndrome, with early-onset IBD and a history of recurrent infections.  His infections have actually improved, and his IBD is responding to therapy.  A very extensive immunology evaluation that I won't detail here has been essentially normal with the exception of mildly increased CD4 memory cells.  He has persistently had hypergammaglobulinemia.  We have been unable to obtain clinical exome, a clinical targeted early-onset IBD sequencing panel was negative.

My question for the group - his IgA is now very elevated (>2x his IgG level). He is receiving steroids and Imuran.

2015 - IgG 1650, IgA 395, IgM 99; CD19 count 4700
2016 - IgG 2500, IgA >6000, IgM 165; CD19 count 300

I've never seen IgA this high in a child.  Has anyone seen this in IBD (treated and controlled) or a primary immunodeficiency?  His sequencing panel included IL10RA, but not IL10, this seems much higher than that reporter.

A bone marrow last year did show increased plasma cells and heme/onc is going to see him again.  A plasma cell disorder seems very unlikely in this age group, but you never know.


Thanks,

Megan


Megan A. Cooper, MD, PhD
Assistant Professor, Department of Pediatrics
Division of Rheumatology
Washington University School of Medicine
Cooper_m at kids.wustl.edu<mailto:Cooper_m at kids.wustl.edu>
Lab website: http://research.peds.wustl.edu/Default.aspx?alias=research.peds.wustl.edu/Labs/Cooper_M



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