[PAGID] Difficult diagnosis

[Turvey, Stuart]

Could you provide a little more information? 
 
Specifically, I was wondering:
-Any informative family history or consanguinity
-Any exam findings (rash, adenopathy, organomegaly)
-CBC data.....particularly the lymphocyte count at the time the lymphocyte phenotyping was done
 
Thanks,
 
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

________________________________

From: pagid-bounces at list.clinimmsoc.org on behalf of Jane Peake
Sent: Wed 14/01/2009 8:13 PM
To: pagid at list.clinimmsoc.org
Subject: [PAGID] Difficult diagnosis



I am uncertain what is wrong with this baby who certainly has a significant immune deficiency and would appreciate any ideas.

Kind regards

Dr Jane Peake

 

Female infant DOB 28/05/08

 

- Thrush -3/52- req topical and oral therapy 

- RSV bronchiolitis - 22 weeks - requiring hospitalisation and oxygen - not ventilated

- Failure to thrive - Noted to have dropped across centiles from 10th at birth (length 25th) to well below 3rd centile 

- Severe PCP pneumonia - 6/12age - ventilated and oxygen 

 

Ix at 6/12 - IgG 0.5 (probably maternal) no IgA or IgM - no tetanus antibody titres - (fully immunised)

 

T and B cell subsets CD3 86%, CD4 51%, CD8 34%, CD19 6%, CD56/16 7%

 

PHA results 

16/12/2008

 

 

02/01/2009

 

PHA conc.

Control

Patient

Control

Patient

0

582

306

59

179

0.63

1196

416

86

754

1.25

169462

481

75119

4115

2.5

306720

938

168981

9677

5

374675

5752

254529

23844

 

Chromosomes normal - no suggestion of abnormalities of Ch 1, 9, 16 following PHA stimulation (excludes ICF syndrome)

 

 

Dr Jane Peake 
Paediatric Immunologist and Allergist 
Royal Children's Hospital 
Herston Rd 
Herston QLD 4029 
AUSTRALIA 
Tel: (61 7) 33 65 53 33 
Fax: (61 7) 33 65 54 55 

 

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