[CIS PIDD] [cis-pidd] No longer receiving emails fom CIS-PIDD list
Stan Ress
stan.ress at uct.ac.za
Sat Nov 8 13:47:31 EST 2014
Hi,
The email below is the last one I received from this list. As far as I know my membership is paid up (earlier this year).
Has my name somehow fallen off the list, or is there another explanation?
Please advise.
Sincerely,
Stan Ress
--
Stanley Ress
Emeritus Associate Professor of Medicine, UCT
UCT Private Academic hospital,
Anzio Road, Observatory,
Cape Town, 7925
South Africa
TEL:INTERN. + 2721-4421966 or 4421816
FAX: " + 2721-(0)865173095
Cell: 0833115482
email: stan.ress at uct.ac.za<mailto:stan.ress at uct.ac.za>
From: Dewton Vasconcelos [mailto:dmvascon at usp.br]
Sent: 21 August 2014 11:05 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] 45 yo man with immunodeficiency and recurrent basal cell and squamous cell carcinoma
Dear Richard, good afternoon
I agree with all previous comments but I would like to suggest DOCK 8 mutation.
We have seen similar manifestations in such patients.
Best regards,
Dewton
Dewton de Moraes Vasconcelos, MD, PhD
Primary Immunodeficiencies Outpatient Unit ADEE3003
Lab. of Medical Investigation Unit 56
University of São Paulo School of Medicine
Richard Wasserman 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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