[CIS PIDD] 8 mo with neutropenia and hypogamm

[Pere Soler Palacin]

Dear Niraj, I wonder if this paper could be useful in your case. I t's a lovely review of neutropenia in PID by Nima an others you may already know.   



Hope it helps, 



Pere. 



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: "Niraj C Patel" <Niraj.Patel at carolinashealthcare.org> 
Para: "pagid at list.clinimmsoc.org" <pagid at list.clinimmsoc.org> 
Enviados: Miércoles, 12 de Septiembre 2012 17:02:35 
Asunto: [CIS PIDD] 8 mo with neutropenia and hypogamm 






Any thoughts would be appreciated, and keep in mind the following questions: 

1) Should I be concerned for WHIM syndrome and if so, who can help with testing? 

2) Concerns for other causes of neutropenia? Cyclic neutropenia, severe neutropenia, others? 



8 mo old male with maternal history of neurofibromatosis who was born full term.  His problems include: 

-Scope of his airways due to noisy breathing at age 3 days was normal. 

-2-3 episodes of oral thrush at day 11. 

-Diagnosed subsequently with 8 urinary tract infections (no documented records yet). 2 renal ultrasounds normal, no VCUG done. 

-Circumcision at 6 months was complicated by cellulitis. 

-Neutropenia since one month of age (ANC 800), now 500 at 8 mo 

-More than 4 ear infections, one tonsillitis, one pharyngitis, 3 episodes of bronchiolitis 

- mouth ulcers by history 

Fam Hx: paternal uncle (age 21) with similar history of chronic neutropenia (as child and currently), chronic sinusitis, no antibody response to vaccines, status post 3 bone marrows (all reportedly normal, awaiting records) and did NOT suffer from viral infections including warts; father with crohn’s and ankylosing spondylitis, paternal grandmother with lupus 



He has reflux. His cord fell of at 2-3 weeks of age. No pneumonias, meningitis, sepsis. No abscesses. He is unvaccinated. 



Laboratories (evaluation at 8 mo of age unless otherwise specified): 

ANC since 2 mo of age range 500-1,240. He had one neutrophil count at 3 mo = 2070. 

IgG 231, IgA 15, IgM 18, IgE 18 

Isohemaglutinins: anti A1 IgM: 16, IgG 16; anti A2 IgM; 4, IgG 4 

Complement: 55 

WBC 6.5,  ALC 4,576,  CD3T: 3,295, CD4T: 2105  CD8T: 1007 CD16/56, CD19B : 1007 

Hgb 12.4, MCV 81 ; Plt 311 MPV 7.4 

Lymphocyte proliferation to mitogens normal 

Bone Marrow: mature neutrophils seen (13%), no myelodysplasia 

Neutrophil antibody negative 

Chromsomes negative 

Sweat chloride normal 

Neutrophil elastase pending 





Thank you, 

Niraj 

Niraj Patel, MD MS 



Department of Pediatrics 

Infectious Diseases and Immunology 



Levine Children's Hospital 

Carolinas Medical Center 

PO Box 32861 

Charlotte , NC 28232-2861 



Email: niraj.patel at carolinashealthcare.org 








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