[CIS PIDD] [cis-pidd] 45 yo man with immunodeficiency and recurrent basal cell and squamous cell carcinoma

[Sullivan, Kathleen]

I don’t think Steve Holland is on the list serve but I think he would say GATA2 is at least somewhat likely.  Often NK cells and monocytes are low.

Kate
Kate Sullivan, MD PhD
Wallace Chair of Pediatrics
Professor of Pediatrics
ARC 1216 Immunology CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697
(f) 267-426-0363


On Aug 20, 2014, at 1:18 PM, Richard Wasserman <drrichwasserman at gmail.com> wrote:

> I am posting this case in behalf of my colleague.
> 
> 
> 
> 45yo male presents for immune evaluation due to recurrent basal and squamous cell carcinoma and immunodeficiency.
> 
> The patient reports a long-standing history of recurrent sinopulmonary infections since childhood. He has undergone bilateral myringotomy tube placement several times and adenoidectomy. He has been treated for bacterial pneumonia ~6 times in his lifetime.
> 
> There has also been a recurrent problem with warts (perianal, genital and hands). He reports WHIM genetic testing (I assume CXCR4 Gene Sequencing) has been negative in the past.
> 
> He also reports a severe outbreak of chicken pox as a child, requiring hospitalization for 10 days. It was complicated by viral meningitis. As an adult, he has had several cases of pneumonia of presumed viral etiology.
> 
> There is a prior history of specific IgM deficiency and he was previously treated with IGIV due to a poor response to Pneumovax. His last infusion was  about 9 month ago. In those 9 months, he reports being treated for 9-10 sinus infections. Prior allergy testing to common aeroallergens was negative.
> 
> Patient underwent balloon sinuplasty in 2008. Biopsy of his nares at that time showed a basal cell carcinoma. One year later, he had a spindle cell carcinoma on his left ear requiring excision and grafting. Since then, he has had 2-3 basal cell carcinoma removed, and about 12 biopsy-proven squamous cell carcinomas.
> 
> Three months prior to presentation, he underwent removal of a squamous cell carcinoma and grafting of his left cheek. He also required chemotherapy (cetuximab, carboplatin, paclitaxel). He is currently weaning off of prednisone as well.
> 
> His most recent laboratory evaluation is below:
> 
> Strep pneumo titers were <0.3 mcg/mL to 23 serotypes. Post-Pneumovax titers pending.
> 
> 
> 
> Total Memory B-cell % Abs CD19+/CD27               25%                             9-64
> Total Memory B-cell Absolute CD19+/CD27+        12(L)cells/uL             18-242
> Class-switched Memory % CD19+/CD27+/IgD-     11%                              4-40
> Class-switched Absolute CD19+/CD27+/IgD-          5(L)cells/uL               7-155
> Non-switched Memory % CD19+/CD27+/IgD+       14%                             3-35
> Non-switched Absolute CD19+/CD27+/IgD+            7cells/uL                    5-100
> Naive B-cell % CD19+/CD27-/IgD+                           65%                             0-100
> Naive B-cell Absolute CD19+/CD27-/IgD+               30cells/uL                  5-345
> B-cells % CD19                                                               2(L)%                        6-28
> B-cells Absolute CD19                                                 46(L)cells/uL            94-588
> 
> 
> 
> PHA, Cpm                   L 25214 (Net CPM)                             73700-265000
> Con A, Cpm                L 14915 (Net CPM)                             46100-283000 EZ
> PWM, Cpm                 L 11473 (Net CPM)                             29,100-125,000
> 
>  
> Immunoglobulin A              161 (mg/dL)                           81-463 mg/dL
> Immunoglobulin G           L 470 (mg/dL)                        694-1618 mg/dL
> Immunoglobulin M             L <5 (mg/dL)                           48-271 mg/dL
> Immunoglobulin E                   3 (kU/L)                         <OR=114 kU/L
> 
>  
> Tetanus Toxoid Antibody   0.58 (IU/mL)
> 
> Diphtheria Antitoxoid Ab   0.08 (IU/mL)
> 
>  
> Any further recommendations for additional laboratory evaluation?
> 
> 
> Besides resuming immunoglobulin replacement therapy, any other recommendations for therapy?
> 
> 
> 
> Thank you.
> 
> 
> 
> Richard Wasserman
> 
> Dallas
> 
> -- 
> Richard L. Wasserman, MD, PhD
> DallasAllergyImmunology
> 7777 Forest Lane, Suite B-332
> Dallas, Texas 75230
> Office (972) 566-7788
> Fax (972) 566-8837
> Cell (214) 697-7211
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