[CIS PIDD] Warts and T-cell lymphopenia

[Fleisher, Thomas (NIH/CC/DLM) [E]]

Helen Su felt the lymphopenia was a bit extreme for DOCK8 (in her experience) and certainly a hypomorphic RAG1 or RAG2 mutation could be another consideration although I do not recall that viral skin disease is prominent in hypomorphic RAG mutations, maybe others can comment on that. There is the Taco Kuijpers paper in Blood in 2011 of a girl with idiopathic  T lymphopenia linked to RAG deficiency with relatively normal B cell numbers but abnormal B cell subsets – the patient presented during childhood with difficulty linked to a zoster infection and also had sinopulmonary disease (but no granulomas or autoimmunity). Clearly not a phenocopy of your patient but another example of the very expanded clinical phenotype found with RAG defects.

Thomas A. Fleisher, M.D.
Chief, Department of Laboratory Medcine
NIH Clinical Center
Bethesda, MD 20892
301 496-5668 (tel)
301 402-1612 (fax)

From: Kirkpatrick, Charles [mailto:Charles.Kirkpatrick at ucdenver.edu]
Sent: Tuesday, August 07, 2012 4:42 PM
To: 'pagid at list.clinimmsoc.org'
Subject: Re: [CIS PIDD] Warts and T-cell lymphopenia

Thanks, Tom.  I have been concerned about DOCK8 in this man.  His IgE is normal. Who  does the genetic study?

Chuck

From: pagid-bounces at list.clinimmsoc.org<mailto:pagid-bounces at list.clinimmsoc.org> [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Fleisher, Thomas (NIH/CC/DLM) [E]
Sent: Tuesday, August 07, 2012 8:40 AM
To: 'pagid at list.clinimmsoc.org'
Subject: Re: [CIS PIDD] Warts and T-cell lymphopenia

? DOCK8
--------------------------
Dr. Thomas Fleisher
Department of Laboratory Medicine
National Institutes of Health
Phone: (301) 496-5668

From: Kirkpatrick, Charles [mailto:Charles.Kirkpatrick at ucdenver.edu]<mailto:[mailto:Charles.Kirkpatrick at ucdenver.edu]>
Sent: Tuesday, August 07, 2012 10:35 AM
To: 'pagid at list.clinimmsoc.org' <pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>>
Subject: [CIS PIDD] Warts and T-cell lymphopenia

I am evaluating a 48 y/o Caucasian male who developed extensive warts on his hands and feet  about 1998 but spreading widely over feet and hands since 2003.  He was well until then, but he had a cutaneous VZV infection shortly before the onset of warts.  There have been no genital lesions. Failed treatments include liquid nitrogen, Aldara, topical sensitization and application of 2% and 4% CDNB, intralesional injections of Candida skin test antigen, V-Beam laser treatments, duct tape and many herbal and OTC medications.

Labs:  HIV – negative X2, CBC normal, IgG, IgA, IgM all normal, absolute CD3 – 260/ul; CD4 190/ul; CD8 – 60/ul; CD45/CD4 RA 2.3% of total T-cells (control 57.7%); CD45/CD4/RO -96.8% of total T-cells (control 40.8%).
T-cell proliferations to PHA, ConA and PWM all low; proliferation response to tetanus – low; to Candida normal.  DTH to Candida 28 mm induration.

Any comments about diagnosis?  Does anyone have experience with topical or intravenous Cidifovir in patients such as this?

All comments appreciated.

Charles Kirkpatrick, M.D.
Allergy and Immunology
University of Colorado Health Sciences Center
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/pipermail/pagid/attachments/20120807/64dfc8f8/attachment-0001.html>