[CIS PIDD] [cis-pidd] SCID with severe neutropenia

[Pere Soler Palacin]

Yes, we had a patient with early-onset pancytopeniawho was finally disgnosed of DK. We'll check telomere lenght, too. 



Thanks and best regards, 



P. 



Pere Soler Palacín, MD, PhD. Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron.     Assistant Professor. Universitat Autònoma de Barcelona.                                                       
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. Hospital Universitari Vall d'Hebron.     Assistant Professor. Universitat Autònoma de Barcelona.                                                       
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: "Dr. Carsten Speckmann" <carsten.speckmann at uniklinik-freiburg.de> 
Para: "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org> 
Enviados: Jueves, 17 de Octubre 2013 17:31:09 
Asunto: Re: [cis-pidd] SCID with severe neutropenia 

Dear Pere, 

the patient seems a bit too young to consider PCFT (folate transporter) deficiency or other "replication defects" like dyskeratosis related disorderts (e.g. RTEL1). 
These diseases might however aggravate if patients encounter a "replication challenge" like early systemic infections. We picked up young pts with these defecst who presented with early onset bone marrow failure (affecting all lineages). Good luck, best wishes Carsten 
Dr. med. Carsten Speckmann
Funktionsoberarzt/Consultant Immunologist
Zentrum fuer Kinderheilkunde und Jugendmedizin
Centrum fuer Chronische Immundefizienz - CCI 
Universitaet Freiburg
Mathildenstr. 1
79106 Freiburg
Germany

phone: +49 (0)761-270 43010
mail: carsten.speckmann at uniklinik-freiburg.de web: www.cci.uniklinik-freiburg.de 
Am 17.10.13 17:18, schrieb Pere Soler Palacin: 




Auditory Evoked potentials: normal. 

The child remain pancytopenic and agammaglobulinemic. 

We'll consider him for HSCT. 



We'll keep you updated. 



P. 



Pere Soler Palacín, MD, PhD. Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron.     Assistant Professor. Universitat Autònoma de Barcelona.                                                       
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: dmvascon at usp.br 
Para: "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org> 
CC: "Juan Santos" <jlsantosperez at gmail.com> 
Enviados: Sábado, 12 de Octubre 2013 23:00:46 
Asunto: Re: [cis-pidd] SCID with severe neutropenia 


Dear Pere and Juan, good afternoon 

As you previouly thought, I also thought in AK2 and ADA deficiency. 
Nevertheless, ADA deficiency is not usually associated to myeloid cells cytopenias. 
As AK2 deficiency is associated to sensorineural deafness, despite the low age of the patient, could be interesting to screen for deafness in the patient, and to get a stem cell donor for early transplantation. 

Best regards, 

Dewton 

Dewton de Moraes Vasconcelos, MD, PhD 
University of Sao Paulo School of Medicine 
Sao Paulo, Brazil 




De: "Pere Soler Palacin" <psoler at vhebron.net> 
Para: "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org> 
Cc: "Juan Santos" <jlsantosperez at gmail.com> 
Enviadas: Sábado, 12 de Outubro de 2013 13:39:57 
Assunto: [cis-pidd] SCID with severe neutropenia 


Dear all, I need your comments on this case currently being followed-up in another centre. 
He's a  5 weeks of iife boy with bacterial sepsis, agammaglobulinemia, severe neutropenia and lymphopenia with almost absent white cell precursors in BM aspirate. Anemia and transient thrombocytopenia were also present. ADA was ruled out using biochemical assays in urine and AK2 mutational analysis was negative. See a brief report below. 

Any comment on it will be appreciated. Thnx in advance. 

Pere. 

CASE REPORT: 



AAE, male. BD: 5th September 2013, now 5 weeks of age. 

No consanguineous, healthy parents. 1 healthy sister. 

Gestation 39 weeks without incidences. Normal weight and height. No dysmorphic signs. 



At the 3 rd day of life fever (38.5ºC) à  Blood and CSF cultures yielded : E. coli. TLC: 90-200 leucocytes/mm3 (68% PMN, 27%Lymph). Platelets 34,000/mm3 (normalized afterwards), Hb 6.8 g/dl. Normal triglyceride and fibrinogen levels. Ferritin 804 ng/ml (after blood transfusion). 

Lymphocyte subsets: CD3 75/mm3 (78.8%), CD4 80/mm3 (68.1%) CD8 8.4/mm3 (9.9%) NK 1,6/mm3 (1,8%) B 6.8/mm3 (8%). 

Immunoglobulin levels: IgA <7 mg/dl, IgM 6.6 mg/dl, IgG 600 mg/dl (probably of maternal origin, before 1 st IVIG infusion). 

Bone marrow aspirate: Diminished megacariocyte number with vacuolated platelets. Red cell hyperplasia with different maturational stages, cytoplasmic granules and nuclear appendix. White blood cells were virtually absent. Isolated neutrophils with cytoplasmic vacuolization. Some macrophages with haemophagocitosis and 2-3% blasts (haematogones). 



Adenosine-deaminase in both urine in plasma: normal. 

AK2 gen analysis: No mutation detected.  



Treatment with IVIG and G-CSF (non response) was started at that point together with prophylaxis with cotrimoxazole and fluconazole. Blood transfusion (irradiated). 


Pere Soler Palacín, MD, PhD. Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron.     Assistant Professor. Universitat Autònoma de Barcelona.                                                       
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. 


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