[PAGID] Disseminated mycobacterium

[Antonio Condino]

REMEMBER CGD CAN CAUSE SIMILAR CLINICAL PICTURES

IN ADDITION, NFKB DEFECT DUE TO IKB-ALPHA HYPERMORPHIC MUTATION SHOULD ALSO BE
CONSIDERED.

-- 
Antonio Condino MD PhD
Associate Professor
Department of Immunology
Institute of Biomedical Sciences
University of Sao Paulo
1730 Lineu Prestes Avenue 1730
Sao Paulo - SP. ZIP 05508-900.
Brazil
Tel 55 11 3091-7387
Fax 55 11 3091-7224



Citando Chris Seroogy <cmseroogy at pediatrics.wisc.edu>:


> Dear Colleagues:

> 

> I would like your advice on management of a 19 m/o previously healthy

> caucasion girl who presented 4 days ago with thrombocyopenia and anemia.

> Her bone marrow biopsy revealed numerous AFB+ organisms.  Her blood grew

> mycobacterium and pneumococcus and her stool is growing mycobacterium.

> Further identification is pending.  She has tremendous hepatospenomegaly and

> high fevers.  Family history is incomplete as mother is adopted and parents

> are unlikely related.  She is fully immunized (including live vaccines). ALC

> 2020, IgG and IgM elevated for age. She is being treated with a "cocktail"

> of antimicrobials for mycobacterium per our ID team and vancomycin.  She

> remains critically ill.

> 

> It seems likely that she has a defect in IFN-g/IL-12 axis.  We will be

> sending blood to Steve Holland next week.  In the interim, I would like

> opinions about using IFN-g (or perhaps IFN-a if this is a complete IFNR1

> defect.)  Have any of you empirically used IFN-g in this setting?  Is there

> any downside?  How rapid should improvement be observed if there is a

> functioning IFNR?  Thank you for your insights, Chris

> 

> 

> Chris Seroogy, M.D.

> 

> University of Wisconsin

> 

> Assistant Professor

> 

> Dept. of Pediatrics

> 

> Mail:  H4/474 CSC, Mailstop 4108

> 

> Shipping:  H4/431 CSC, Mailstop 4108

> 

> 600 Highland Ave.

> 

> Madison, WI  53792

> 

> phone: 608- 263-2652

> 

> fax: 608-265-0164

> 

>  

> 

> 



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