[PAGID] Difficult diagnosis

[Berger, Melvin]

Thanks- I was reacting to her message of 1/19 and didn't remember the original numbers. Although there are certainly ADA def cases with some enzyme activity who have some T-cells, I was not suggesting that the T-cell counts could be normal in that condition.
 
Melvin Berger, M.D., Ph.D.
Adjunct Professor of Pediatrics and Pathology
Case Western Reserve University
phone 216 844 3237
 
Director, Jeffrey Modell Center for Primary Immune Deficiencies
Division of Allergy-Immunology
Rainbow, Babies and Children's Hospital
University Hospitals of Cleveland
RB&C Rm 504, MS 6008B
11100 Euclid Ave.
Cleveland, OH 44106

________________________________

From: pagid-bounces at list.clinimmsoc.org on behalf of Conley, Mary-Ellen
Sent: Tue 1/20/2009 11:46 AM
To: pagid at list.clinimmsoc.org
Subject: Re: [PAGID] Difficult diagnosis


Mel, Jane told us on Jan 14th that the lymphocyte count was 4-6 thousand.  I interpreted this as a normal (but maybe the units are different down under?).
I would think that a normal lymphocyte count would rule out ADA deficiency, as long as the lymphocytes are from the baby?
Mary Ellen
 





Mary Ellen Conley, MD 
Department of Immunology/ Mail Stop 351 
St. Jude Children's Research Hospital 
262 Danny Thomas Place 
Memphis, TN 38105-3678 
FAX  901-595-3977 
TEL  901-595-2576 

 


________________________________

	From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Berger, Melvin
	Sent: Monday, January 19, 2009 9:47 PM
	To: pagid at list.clinimmsoc.org
	Subject: <SCL6.5> Re: [PAGID] Difficult diagnosis
	
	
	ADa and PNP deficiencies should still be ruled out, if you haven't already checked.
	 
	Melvin Berger, M.D., Ph.D.
	Adjunct Professor of Pediatrics and Pathology
	Case Western Reserve University
	phone 216 844 3237
	 
	Director, Jeffrey Modell Center for Primary Immune Deficiencies
	Division of Allergy-Immunology
	Rainbow, Babies and Children's Hospital
	University Hospitals of Cleveland
	RB&C Rm 504, MS 6008B
	11100 Euclid Ave.
	Cleveland, OH 44106

________________________________

	From: pagid-bounces at list.clinimmsoc.org on behalf of Jane Peake
	Sent: Mon 1/19/2009 9:16 PM
	To: pagid at list.clinimmsoc.org
	Subject: Re: [PAGID] Difficult diagnosis
	
	

	Thank you everyone for your suggestions. I originally thought that this child had SCID in view of history and when had virtually complete absence of T cell proliferation with first test but was troubled by the fairly normal distribution of lymphocytes - told the parents that, started work up looking for donors (first child) for BMT etc however repeat T cell function found that had T cell function that was diminished but certainly far from absent. WRT the cells being maternal or baby, we are trying to get the Vb distribution done but Tc gene rearrangements showed polyclonal DNA. We are in process of organising TRECs and activation markers (not done locally). No family history, no eosinophilia, no IgE. Development is completely normal. At present I have her on IVIg and prophylactic antibiotics and antifungals but don't feel can proceed to BMT in the absence of a more definitive diagnosis.

	Will let you know further info when it is to hand

	Thanks again

	Jane 

	 

	Dr Jane Peake 
	Senior Lecturer 
	Paediatric Immunologist and Allergist 
	Department of Paediatrics and Child Health 
	University of Queensland 
	Level 3 RCH Foundation Building 
	Royal Children's Hospital 
	Herston Rd 
	Herston QLD 4029 
	AUSTRALIA 
	Tel: (61 7) 33 65 53 33 
	Fax: (61 7) 33 65 54 55 

	
________________________________


	From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Turvey, Stuart
	Sent: Friday, 16 January 2009 3:36 AM
	To: pagid at list.clinimmsoc.org
	Subject: Re: [PAGID] Difficult diagnosis

	 

	I think this Australian baby is a great case for the larger group to consider and to ask the question what do we need to make the diagnosis of SCID? 

	 

	We have a 6 month old female baby with:

	-infections (candida, RSV, PCP)

	-failure to thrive

	-hypogammaglobulinemia and no response to tetanus vaccination

	-PHA proliferative responses <10% control values

	-normal lymphocyte numbers

	 

	For me this is consistent with autosomal recessive SCID. Important things to do include assessment for maternal engraftment and quantification of naive vs memory cells.

	 

	I wonder if others feel I am 'jumping-the-gun' and we need more data?

	 

	Stuart

	 

	Stuart Turvey MB BS DPhil

	Assistant Professor

	Division of Infectious and Immunological Diseases

	BC Children's Hospital and Child & Family Research Institute

	Rm 371

	950 West 28 Avenue

	Vancouver BC V5Z 4H4

	Ph: 604 875 2345 x5094

	Fax: 604 875 2226

	 


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