[CIS PIDD] [cis-pidd] agammglobulinemia probable

[Daniel Suez]

It looks like classic XLA.  You may want to do a flowcytometry to enumerate
circulating B cells (CD19 or CD20).  There are several places in the US and
elsewhere that you could send a DNA sample for gene sequencing to rule out
BTK mutation.  Ne such place is at Washington University in Seattle at Hans
Ochs's Lab.
Dr. Suez

 
Daniel Suez, MD, FAAAAI
Clinical Associate Professor
UT Southwestern Medical Center at Dallas
1115 Kinwest Pkwy, Suite 100
Irving TX 75063
T: 972-401-0545  F: 972-401-0614  C: 214-708-0727
 

From:  Wilmer Cordova Calderon <wilmer.cordova at gmail.com>
Reply-To:  CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
Date:  Tuesday, January 15, 2013 5:46 PM
To:  CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
Subject:  [cis-pidd] agammglobulinemia probable

Best Regards
We present a case, to find a place where do the molecular research.
Here In Lima Perú dont have this kind of study
 
Male patient HAJG
Age 4 years
Date of birth: 26/06/08
hospitalizations
2009 May pneumonia tumbes 10m
2009 July 1st 3d 6m pneumonia
2010 March FOD. IDP is diagnosed.
2010 July chronic recurrent pneumonia bronchiectasis DC INSN
Traumatic arthritis arthrocentesis 2011
family history
healthy parents
healthy sisters
Paternal uncles (5/3) who died at an early age: 02
Diagnostics
IDP: Cr agammaglobulinemia X-linked DC
chronic bronchitis
hiatal hernia
First dose gamma: 30/04/2010 (1st 10m)
Then every two months
Approximately 14 applications
HEMOGRAMA/FECHA    
Recuento/Fecha 10/1/13 20/11/2012 8/8/12 11/8/1216/05/2013 27/3/10
Hematocrito: 39 38 40 3936 26
Leucocitos n° absoluto  14000 12530 17520 1317011000 12600
BASOFILOS 0 2 0 02 0
Eosinófilos 1 4 4 34 2
Abastonados  0 0 0 10 1
Segmentados 524342484212
Linfocitos  36 41 46 4246 77
Monocitos 11 10 8 66 10
Hemoglobina.  12.4  1312.4 8
Plaquetas: 400 350 410 470 576
Elementos adicionales:
B.1 RAMA HUMORAL   
Gamma infusion 10/01/2013  10/08/201217/05/201217/05/2012
Inmunoglobulinas 24/11/12 10/1/13 20/11/12 8/8/1211/08/2012
18/05/201216/05/201212/04/2010
Ig G <2DS si/no 1012 415 161 2941 42712734270
Ig M <2DS si/no 0 1 0 01327 1012
Ig A <2DS si/no 0 1 0 10 1210

 


-- 
Atte 
Wilmer Córdova
Inmunología Alergología
Instituto Nacional de Salud del Niño - Perú
http://www.isn.gob.pe <http://www.isn.gob.pe/>
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