[PAGID] Difficult diagnosis

[Notarangelo, Luigi]

Any data on naïve vs, memory T cells? T cell repertoire? Serum IgE?


Luigi D. Notarangelo, M.D.
Jeffrey Modell Chair of Pediatric Immunology Research in Boston
Director, Research and Molecular Diagnosis Program on Primary Immunodeficiencies
Division of Immunology, Children's Hospital
Professor of Pediatrics and Pathology, Harvard Medical School
Karp Building, 9th floor, Rm 09210
1 Blackfan Circle
Boston, MA 02115
USA

(tel) (617)-919-2276
(fax) (617)-730-0709


Secretary: Luisa Raleza
email: luisa.raleza at childrens.harvard.edu






On 1/14/09 11:13 PM, "Jane Peake" <j.peake at uq.edu.au> wrote:

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