[PAGID] 6 year old girl with diminished acute phase response

[Kathleen Sullivan]

If she was IUGR or has any dysmorphic features at all, I would consider Fanconi anemia or the dyskeratosus congenita disorders.  I would wonder about the urolithiasis and whether her short stature was due to some renal wasting and the bone marrow suppression is (as you suspect) infection.  In other words, her story does not sound strongly like immune deficiency although it makes sense to consider it.


----- Original Message -----
From: "Sabiha Anis" <sabiha_anis at hotmail.com>
To: "PAGID" <pagid at list.clinimmsoc.org>
Sent: Wednesday, December 9, 2009 3:59:58 AM GMT -05:00 US/Canada Eastern
Subject: [PAGID] 6 year old girl with diminished acute phase response


Dear Colleagues 
We have a 6 year old girl with recurrent urolithiasis but normal renal functions and short stature for her age. Recently she developed pancytopenia and revealed hypoplastic bone marrow. she has had multiple episodes of UTIs and recently had Malaria but never showed a spike in temeperature above 99 0 F. During her acute illness, her CRP was 0.18 (cutt off = 0.7). her retic count is 3 %. there is no history of any medication associated with hypoplastic bone marrow. Therefore infections causing bone marow suppression is more likely. We do not perform cytokine levels routinely. I require your guidance as how to further investigate this child for a PID and how she can be helped. 

Regards 
Sabiha Anis 
Clinical Immunologist 
Sindh Institute of Urology and Transplantation (SIUT) 
Karachi, Pakistan 


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-- 
Kathleen E. Sullivan, MD PhD
Chief, Division of Allergy and Immunology
Wallace Chair of Pediatrics
Director, Immunology Clinic
The Children's Hospital of Philadelphia
Phone: 215-590-1697
Fax: 267-426-0363