[CIS PIDD] Patient with thymoma, autoimmunity, recurrent infections, normal Igs and B cells

[Yesim Yilmaz]

Hi Juan Carlos, 
Has CF been ruled out? 
What about pneumococcal titers? I would check vaccine response. 
Yesim 

Yesim Yilmaz Demirdag 
West Virginia University 
School of Medicine 
Morgantown, WV 

Sent from my iPhone

On Jul 23, 2012, at 12:35 AM, Juan Carlos Aldave Becerra <jucapul_84 at hotmail.com> wrote:


> Dear Doctors,

> 

> Last week I have evaluated a 8 year old boy with the following features:

> 

> 1. Recurrent infections:

> - Many pneumonias and upper respiratory infections, once complicated with pleural effusion

> - Urinary tract infectionsEnviar

> - Giardia lamblia infections.

> - No results of cultures available (seen in other hospitals).

> - No other opportunistic infections.

> 

> 2. Autoimmune features:

> - Diarrhea for several months (colitis, probable autoimmune?)

> - Autoimmune hepatitis (pending biopsy result).

> 

> 3. Thymoma, diagnosed some months ago, surgery is planned.

> 

> 4. Laboratory results (available analysis in Peru):

> - CBC, IgG, IgA, IgM, CD19, CD4, CD8, CD16/CD56, CH50, NBT: normal values

> - IgE: 600

> - Antibody to tetanus: <0.1 (although he has received 3 doses according to vaccination schedule)

> - Antibody to HBsAg: negative (although he has received 3 doses according to vaccination schedule)

> - Antibody to rubella: negative (although he has received 1 dose according to vaccination schedule)

> 

> 5. The patient has a brother with similar characteristics and a healthy sister

> 

> I have revised the literature, I don't find any suggestive diagnosis except for CVID (although normal B cells and normal IgG, IgM and IgA values).

> 

> My questions are:

> Do you suggest any other diagnosis?

> Do you think he should receive IVIG?

> Thymoma should be removed?

> 

> 

> Thank you so much,

> 

> 

> Juan Carlos Aldave, MD

> Allergy and Clinical Immunology

> Rebagliati Martins National Hospital - Lima, Peru

> 

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