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

Thu Aug 21 02:30:06 EDT 2014

Dear Richard,

It was nice chatting with You at CIS meeting in Baltimore. Like Kate, I suggest GATA2 (mutation or haploinsufficiency).

As to Your Qs:

You could further pinpoint the diagnosis by FACS/ pDC, mDC counts, missing or very low? If they are low/missing but when tested GATA2 is wt, then the next step is to rule out GATA2 haploinsufficiency from an RNA sample.

BM should be checked against MDS secondary to GATA2.

GATA2 def patients quite often have especially  IgG2+4 low  as well as low/missing anti-PnP responses +/- low diphtheria response. If available, measure all these. And cases resembling CVID have recently been found and published by Gigi’s group in JACI. Our unit has one GATA2 IgG2+4D+SAD treated with IgGRT, and another closely monitored. Both will be SCTx if they agree.

If in diffusion testing DLCOc and KCOc are low, then HRCT and BAL to rule out PAP should be tested. If PAP or MDS+ cytogenetic changes, favor SCTx.

I am sure that Steve will be happy to help further. And Steve’s group has nicely wrapped up the current knowledge in Blood (Spinner MA et al. Blood 2014;123:809-21).

In Finland, (without any founder mutations in the available nationwide genomic /exonic data) GATA2 is presently second only to CVIDs in adult onset PIDD. So one should always keep it in mind.

Mikko

Motto: “Never again will I  fail to check monocyte counts in an adult with PIDD phenotype…”

dos Mikko Seppänen, LKT
Immuunipuutosv-o, HYKS

Mikko Seppänen, MD, PhD, Associate professor/Senior Lecturer
Specialist in Internal Medicine and Infectious Diseases
Senior Consultant, Physician in charge (PIDD)
Immunodeficiency Unit
Division of Infectious Diseases
Department of Medicine
Helsinki University Central Hospital
Hospital District of Helsinki and Uusimaa
Aurora Hospital, Ward 4-2 and Outpatient Clinic
P.O.Box 348
FI-00029 HUS, Helsinki
FINLAND
phone +358 9 47175923, fax +358 9 47175945

Lähettäjä: Richard Wasserman [mailto:drrichwasserman at gmail.com]
Lähetetty: 20. elokuuta 2014 20:19
Vastaanottaja: CIS-PIDD
Aihe: [cis-pidd] 45 yo man with immunodeficiency and recurrent basal cell and squamous cell carcinoma

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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