[PAGID] Difficult diagnosis

[Conley, Mary-Ellen]

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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