[CIS-PAGID] Infant with severe enteropathy and T cell defect

[Amos Etzioni]

Dear Jane
Have you looked at DR expression. In class II def you will have normal PHA response with defective response to specific antigens ( like Candida) and low IgS

Amos Etzioni MD
Professor of Pediatrics and Immunology
Director - Meyer Children's Hospital
Bat- Galim, Haifa, Israel 31096
Tel- 972-4-854 2936
Fax- 972-4-854 1870
Email - etzioni at rambam.health.gov.il



-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Jane Peake
Sent: Wednesday, April 04, 2012 11:16 AM
To: pagid at list.clinimmsoc.org
Subject: [CIS-PAGID] Infant with severe enteropathy and T cell defect

Hi
I was wondering if anyone would have any ideas regarding further investigations, diagnosis or management of this infant.

13/12 old male
Born 30/40 Prem, 1/52 neonatal ICU requiring CPAP. NICU stay complicated by a staph infection and very slow to gain weight. Discharged home at term from SCN at 1.9kg.  Failure to thrive since then. Multiple admissions to provincial hospital in first couple of months for diarrhoea and poor weight gain. Otherwise reasonably well, with no further infections and was attending day care 2-3 times per week for 2 months. Couple of mild episodes of oral thrush responded to topical therapy.
At 9 months had rhinovirus bronchiolitis then LRTI with moraxella and Haemophilus Influenzae on NPS.  Continued poor weight gain on amino acid formula and started on TPN at 9months of age. (Weight 4.3kg <<3rd centile).  Gained weight on TPN with improvement in diarrhoea.  Weight plateaued when TPN weaned and diarrhoea returned when NG feed rate increased beyond >15ml/hour. Has remained TPN dependent.
At 10/12 had CVL infection with enterococcus faecalis and profoundly neutropaenic requiring GCSF.  BMA was consistent with early marrow regeneration following a myelotoxic insult(eg infection). Neutropenia recovered after one month and has not recurred.
At 11/12 had a pseudomonas CVL infection - requiring PICU admission.  Recovered quickly. WCC rose, however did not make a CRP response to these infections.

Investigations:
IgG 1.6g/l (3-13) IgA   0.07g/l (0.3-0.9) IgM   0.5 (0.5-1.6)
No specific antibody responses of any kind even following repeat booster immunisation

CD3 6170 (72%) CD4 5410 (63%) CD8 860 (10%) CD19 1860 (22%)     CD56/16 470     (6%)
CD4+CD27+CD45RA+ 91%
Normal numbers of CD19+ B cells with normal proportion of immature B cells.  Reduced proportion of memory B cells and markedly reduced proportion of isotype switched memory B Cells.
T cell proliferation: PHA - normal x 3, No antigen response to candida (x3), nor tetanus following immunisation
CD40L expression normal
Foxp3 expression normal
Chromosomes - 46XY.
Gut biopsy - Evidence of apoptosis, villous blunting, no intra-epithelial lymphocytosis, acute inflammation or granulomata seen and very few plasma cells.  No features of a specific enteropathy identified.

Mother had a brother and an uncle who were both born very premature and died in first few days thought to be as a result of extreme prematurity. One well sister. He has 8 normal teeth and thin "baby" hair. Skin completely normal

I am wondering about possible NEMO and seeing if I can get this done locally but  would appreciate any other thoughts
Thanks kindly
Jane

Dr Jane Peake
Paediatric Immunologist and Allergist
Senior Lecturer
University of Queensland
level 3 Foundation Building
Royal Children's Hospital
Herston Rd, Herston QLD 4029
Tel (61 7) 33655333 or 36365059
Fax (61 7) 33655455






************************************************************************************
This footnote confirms that this email message has been scanned by
PineApp Mail-SeCure for the presence of malicious code, vandals & computer viruses.
************************************************************************************




 
 
************************************************************************************
This footnote confirms that this email message has been scanned by
PineApp Mail-SeCure for the presence of malicious code, vandals & computer viruses.
************************************************************************************