[CIS-PAGID] NZ infant with PJP

[Pere Soler Palacin]

Dear all, if diarrhoea is persistent, I would consider the possibility of IPEX or IPEX-like phenotype (CD25def). What about eosinophil count and IgE values? 

Any endocrine disorder? 



Yours, 



Pere. 



Pere Soler Palacín, MD, PhD 
Pediatric Infectious Diseases and Immunodeficiencies Unit.             
Vall d'Hebron Hospital. 
Passeig de la Vall d'Hebron 119-129. 
08035 Barcelona. Spain. 
Tel: 0034934893140. Fax: 0034934893039. 
E-mail: psoler at vhebron.net ; 34660psp at comb.cat   Web: www.upiip.com 

  


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Pere Soler Palacín, MD, PhD 
Pediatric Infectious Diseases and Immunodeficiencies Unit.             
Vall d'Hebron Hospital. 
Passeig de la Vall d'Hebron 119-129. 
08035 Barcelona. Spain. 
Tel: 0034934893140. Fax: 0034934893039. 
E-mail: psoler at vhebron.net ; 34660psp at comb.cat   Web: www.upiip.com 

  


No imprimir aquest correu ajudarà a preservar el medi ambient. 
Si vostè no és el destinatari del missatge, o l'ha rebut per error, si us plau notifiqui-ho al remitent i destrueixi el missatge amb tot el seu contingut. Està prohibida la distribució no autoritzada del contingut d'aquest missatge. 

No imprimir este correo ayudará a preservar el medio ambiente. 
Si usted no es el destinatario del mensaje, o lo ha recibido por error, notifíquelo por favor al remitente y destruya el mensaje con todo su contenido. Está prohibida la distribución no autorizada del contenido de este mensaje. 

----- Mensaje original ----- 
De: "Joseph Church" <JChurch at chla.usc.edu> 
Para: pagid at list.clinimmsoc.org 
Enviados: Jueves, 28 de Abril 2011 16:14:35 
Asunto: Re: [CIS-PAGID] NZ infant with PJP 




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. 1 st 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 10 9 /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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