[CIS PIDD] [cis-pidd] Test for OKT4 epitope deficiency

[CIS-PIDD]

Dear Professors,

I follow a patient whom I would like to test for OKT4 epitope deficiency. Does any lab perform this test in the US? 
The patient is a 2yo male who presented with severe autoimmune aplastic anemia and was found to have severe CD4 lymphopenia (other lymphocyte subsets are normal) and asymptomatic CMV viremia. Infection history is otherwise unremarkable and patient otherwise appears healthy. HIV and TB tests are negative. He had low response to PHA and ConA and normal response to Pokeweed. IgG is nl, IgM is slightly low. He got IVIG back in July before I was consulted, I haven't gotten vaccine titers. 
Aplastic anemia did not improve once CMV viral load became negative s/p treatment with valacyclovir. 
I'm considering sending SCID genetic panel on this patient as well. 


Thank you,


Araceli




Araceli Elizalde, MD
 Immunology Clinic Director
 Assistant Professor of Clinical Pediatrics
 Allergy, Immunology & Rheumatology
 Children's Hospital of San Antonio
 Baylor College of Medicine


 
 
-----Original Message-----
From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
To: CIS-PIDD <cis-pidd at lyris.dundee.net>
Sent: Fri, Oct 21, 2016 5:37 pm
Subject: [cis-pidd] Steroid-responsive Dysuria in CGD



Colleagues:
 
I follow an 18 month old boy with X-CGD.  He seems to have dysuria that is responsive within a day or two to systemic steroids.  He has had a normal procto-colonoscopy and most recently normal cystoscopy with biopsies negative for inflammation and with no visual evidence of obstruction in the lower urinary tract.
 
What am I missing?
 
Joe Church
Children’s Hospital Los Angeles


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