[PAGID] pt with recurrent herpes infections and destructive nasal lesion

[Charlotte Cunningham-Rundles]

Although Class 1 found, sounds like TAP defect :  

midline granulomas seem to be a clear part of this syndrome.

Clin Exp Immunol. 2000 Aug;121(2):173-8.  TAP deficiency syndrome.
Gadola SD, Moins-Teisserenc HT, Trowsdale J, Gross WL, Cerundolo V.

(We have a very similar pt)



>We would be grateful for any suggestions/advice on the following case:

>

>19 year old male with history of recurrent herpes viral infections 

>(zoster, oral but not genital) dating back to childhood.  No Candida 

>infections.

>Granulomatous hepatitis with sinusoidal lymphocytosis and splenomegaly

>Present problem - extensive nasoseptal destruction and sinonasal 

>disease.  Temporary response to antibiotics with relapse.  Nasal 

>biopsy from 2006 shows an atypical clonal T-cell (mainly CD4 

>T-cells) infiltration but not felt to be a T-cell lymphoma but more 

>of a reactive clonal process.  2nd nasal biopsy results pending.

>

>CD4 T-cells = 5864/ul and CD8 = 83/ul.  Normal B and NK cell 

>numbers.  Normal Igs (G, A and M) except IgE previously at 738 and 

>more recently at 137.

>Skin boils that  are erythematous papular lesions occurring on the 

>arms, legs, back and sometimes on the face.  These are usually warm. 

>Improvement noted with a topical antibiotic (such as Polysporin). 

> Some growth retardation - thought to be due to chronic disease 

>rather than primary endocrinology problem.

>No skeletal anomalies, abnormal facies or episodic fever or diarrhea.

>MHC class I expression on PBMCs normal.

>

>Thanks,

>

>Miguel Park, MD and Roshini S. Abraham

>

>

>Roshini Sarah Abraham, Ph.D., D(ABMLI)

>Cellular and Molecular Immunology Laboratory

>Department of Laboratory Medicine and Pathology

>Hilton 210 e

>Mayo Clinic

>200 1st St SW

>Rochester, MN-55905

>Ph: 507-266-9292

>Ph (Secy): 507-284-4055

>Fax: 507-266-4088

>



-- 


Charlotte Cunningham-Rundles MD PhD
Professor of Medicine, Pediatrics  and Immunobiology
Mount Sinai School of Medicine
1425 Madison Ave, New York 10029
phone 212 659 9268
fax  212 987 5593
Email:  charlotte.cunningham-rundles at mssm.edu
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/mailman/private/pagid/attachments/20080422/d2a9a319/attachment.html>