[CIS-PAGID] NZ infant with PJP

[Church, Joseph]

We had a baby with STAT3 mutation-documented hyper-IgE who presented at
6 months of age with PJP.  The baby's IgE was 153(Ann Allergy Asthma
Immunol 2010;104:93-4).

 

Joe Church

Children's Hospital Los Angeles

 

________________________________

From: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Daniel H. Conway
Sent: Wednesday, April 27, 2011 6:48 PM
To: pagid at list.clinimmsoc.org
Subject: Re: [CIS-PAGID] NZ infant with PJP

 

A recent case had taught me to situate NEMO defects on my differential
for pneumocystis.

Sincerely,

Daniel H. Conway, MD

Assistant Professor of Pediatrics

St. Christopher's Hospital for Children

Drexel University College of Medicine

 


On Apr 27, 2011, at 7:25 PM, "Jan Sinclair (ADHB)" <JanS at adhb.govt.nz>
wrote:

	Dear PAGID members

	 

	Would appreciate any thoughts on a male infant, now 6 months
old.   New Zealand born, South East Asian parents, non consanguineous.
1st child to this couple.   Early oral candida, responding to treatment
but recurring each time treatment stopped. 

	 

	He presented at 3 months of age with:  

	*          Pneumocystis pneumonia, problematic course needing
prolonged intensive care stay, complicated by biopsy proven pulmonary
alveolar proteinosis (managed with repeated pulmonary lavage), now well
from a respiratory point of view.

	*          Failure to thrive and chronic diarrhoea.  Negative
for all GI pathogens (bacterial and viral including PCR), upper and
lower scope with normal pathology on 2 occasions.  Diarrhoea improved
with TPN and now gaining weight but unable to transition back to oral
feeds. 

	 

	Investigations:

	*         Thymus present on first CXR

	*         Normal / raised lymphocyte count (most often 6-12 x
109/l)

	*         No rash, no hepatosplenomegaly, and no adenopathy 

	*         Mild metaphyseal dysplasia, skeletal survey otherwise
no abnormality

	*         Phenotype (repeated over time and essentially
unchanged)

	CD4      49    %           Absolute CD4      6138    X10E6/L

	CD8      22    %           Absolute CD8      2755    X10E6/L

	CD4:CD8 ratio      2.2

	CD3      70    %           Absolute CD3      8823    X10E6/L

	CD19      27    %         Absolute CD19      3451    X10E6/L

	CD56      2    %           Absolute CD56      297    X10E6/L

	*         TREC                                normal

	*         Vb repertoire                     polyclonal

	*          No maternal engraftment

	*          Immunoglobulins               presentation    Feb
Mar      Now

	IgG                               1.7                   IVIG
IVIG      IVIG
	IgA                               0.29                 0.48
<0.07   0.11

	IgM                               0.06                 1.8
0.17     0.12

	*          CD40L normal

	            

	Proliferation:

	At presentation                       PATIENT
CONTROL

	                                    cpm                 SI
cpm                 SI 

	Background                 122
26

	PHA                             1409                11.5
27539              1059.2

	CON A                         1747                14.3
7265                279.4

	CD3 Response           67                    0.5
4696                180.6

	 

	On repeat testing these have improved markedly, most recently:

	                                     PATIENT       SI
Control          SI

	Background                 432
70                 

	PHA                             138930         321
111031         1586

	T3                                16128           37
47781           683

	PMA                             3931             9
9100             130

	Ionomycin                    320               1
238               3

	PMA + Ionomycin        47755           110
229807         3283

	 

	 

	The initial thought was that he may have a T cell activation
defect.  Calcium flux studies were kindly undertaken by Prof Stefan
Feske in New York, which were normal, excluding ORAI1 or STIM1 as the
underlying defect.

	 

	Early in his course the plan was to consider HSCT, with good
cord matches available.  We are currently not hurrying in that
direction, with normalisation of his proliferation, a slew of other
normal investigations, and no diagnosis.  However he is still TPN
dependent and his immunoglobulin results suggest loss of IgA and M
production.

	 

	Any thoughts (underlying defect / other investigations /
treatment options) would be welcome. 

	 

	Dr Jan Sinclair

	Paediatric Immunology

	Starship Children's Hospital

	Auckland, New Zealand

	Ph            (64 9) 307 8900 extension 6429

	Fax          (64 9) 307 8977 (internal 5977)

	Mobile      021 365 445

	 

	
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