[PAGID] CVID with absent IgG

[Dewton de Moraes Vasconcelos]

Dear Dr. Kumar

Due to the fact that the main manifestations were upper and lower 
respiratory infections I would think mainly in adaptive or innate 
humoral (specific polysaccharide antibody deficiency or IgG subclass 
deficiencies) or complement deficiencies, even MBL/MASP. NEMO deficiency 
is also possible, as you already thought, but we don't know about 
ectodermal dysplasia. IRAK-4 deficiency is less probable, as the patient 
apparently didn't improve over time.
I think it is also important to think about the possibility of TAP 
deficiencies, as they are relatively benign and present mainly 
respiratory features (besides necrotizing granulomatous skin lesions).

Good luck with the patient,

Dewton

Ashish Kumar escreveu:

>Sorry group, I thought I was sending this email to Scott Baker, but it
>went to all. But, I would appreciate any input from others who have the
>time.
>Thanks!
>
>Ashish Kumar, M. D., Ph. D.
>Assistant Professor
>Pediatric Hematology/Oncology/Blood and Marrow Transplantation
>University of Minnesota
>
>-----Original Message-----
>From: pagid-bounces at clinimmsoc.org [mailto:pagid-bounces at clinimmsoc.org]
>On Behalf Of Ashish Kumar
>Sent: Tuesday, December 06, 2005 9:22 AM
>To: pagid at clinimmsoc.org
>Subject: RE: [PAGID] CVID with absent IgG
>
>Scott,
>
>Joe saw a 7 yr old boy who has had recurrent otitis since the age of 5
>weeks, 2 bouts of pneumonia, cryptosporidium diarrhea and many other
>things. He did a basic work up - IgG, A, M and E were normal, Diphtheria
>and tetanus titres were reactive; absolute CD19, CD16/56 and CD4 were
>normal, but absolute CD8 count was slightly lower than normal. 
>
>I think he has something, don't know what though. I was proposing to
>perform T-cell and NK-cell functional studies. I haven't seen him, so
>don't know if he has crooked teeth. Your thoughts?
>
>Thanks!
>Ashish
>
>Ashish Kumar, M. D., Ph. D.
>Assistant Professor
>Pediatric Hematology/Oncology/Blood and Marrow Transplantation
>University of Minnesota
>
>-----Original Message-----
>From: pagid-bounces at clinimmsoc.org [mailto:pagid-bounces at clinimmsoc.org]
>On Behalf Of K. Scott Baker
>Sent: Tuesday, December 06, 2005 8:44 AM
>To: pagid at clinimmsoc.org
>Subject: Re: [PAGID] CVID with absent IgG
>
>We recently saw a 16 yr old female admitted to the general peds service
>with
>pneumonia several months ago with the same immunoglobulin picture (IGG
>around 40).  No significant prior history outside of the few months
>prior to
>admission. Rest of workup has been uninformative.
>  
>

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