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

[Juan Carlos Aldave Becerra]

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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