[CIS PIDD] [cis-pidd] wart predisposition syndrome?

[Verbsky, James]

Ive posted this before but I have seen inverted CD4 to CD8 ratios in xIAP.  I was wondering if others can comment.  The original description also had some patients with the same phenotype.  They are susceptible to other viruses..so i agree that its worth a look

James Verbsky MD/PhD
Associate Professor of Pediatrics and Microbiology and Molecular Genetics
Medical College of Wisconsin
Milwaukee, WI  53226
________________________________________
From: Michael Albert [mialbert at gmail.com]
Sent: Friday, January 11, 2013 4:26 PM
To: CIS-PIDD
Cc: CIS-PIDD
Subject: Re: [cis-pidd] wart predisposition syndrome?

XIAP?
Given the splenomegakly and celiac disease.
I haven't heard of warts in this context, but has anyone else?
Michael



PD Dr. med. Michael Albert

Oberarzt

Abteilung für Pädiatrische Hämatologie/Onkologie

Leiter der Stammzelltransplantation

Dr. von Haunersches Kinderspital der LMU

Lindwurmstr.4

80337 München

Tel: 089 5160 2785

Fax: 089 5160 4719

Am 11.01.2013 um 19:34 schrieb "Notarangelo, Luigi" <Luigi.Notarangelo at childrens.harvard.edu>:


> Dear Blachy:

>

> There are now a variety of genetic defects leading to EV. These include EVER1 and EVER2, but also DOCK8, RhoH, STK4. I would encourage you to contact Dr Casanova. He has an active research project on this topic and may be able to help you with this case.

>

> Gigi Notarangelo

>

> Sent from my iPhone

>

> Luigi D. Notarangelo, MD

> Jeffrey Modell Chair of Pediatric Immunology Research

> Division of Immunology

> Children's Hospital Boston

> Professor of Pediatrics and Pathology

> Harvard Medical School

> Karp Building, Room 10217

> 1 Blackfan Circle

> Boston, MA 02115

>

> Tel: (617)-919-2276

> Fax: (617)-730-0709

>

>

> On Jan 11, 2013, at 7:13 PM, "Blachy Davila-Saldana" <davilasa at ohsu.edu<mailto:davilasa at ohsu.edu>> wrote:

>

>

> Hello all;

>

>

>

> I recently met a 6 year old male patient born to non consanguineous Iraqui parents.  He was referred to me from dermatology after biopsy of a chronic rash showed changes consisted with verruca plana (flat wart).  They were concerned about acquired epidermodysplasia verruciformis (EDV) and its malignant skin predisposition.  He, however, is not on any immune suppressants and there is no family history.  In addition, he has several other issues which make me question this diagnosis.  These include:

>

>

>

> - enteropathy since infancy, with previous need for prolonged hospitalization and nutritional support.  It is presumed as celiac disease, although no pathologic or laboratory values demonstrate this.  He is, however, clinically improved on a gluten, egg and dairy-free diet, and has no current issues with diarrhea or malabsoprtion.

>

>

>

> - he is s/p splenectomy 2 years ago because on massive enlargement causing compression, pain and difficulty feeding. Pathology showed changes consistent with a hemangioma.

>

>

>

> - primary sclerosing cholangitis, diagnosed after common duct stenosis caused pancreatitis.  Anti-mitochondrial antibodies were negative.

>

>

>

> - several bouts of pancreatitis, all presumed secondary to PSC.

>

>

>

> -  His rash is not typical of flat warts; "multiple pink to skin colored shiny <1 mm flat topped papules on the posterior and anterior neck, upper back, upper chest, ears, forehead, cheeks, eyelids, chin, and antecubital fossae coalescing into plaques in areas."

>

>

>

>

>

> Studies performed:

>

>

>

> Pathology from skin biopsy: In the left antecubital fossa biopsy there is slight epidermal hyperplasia composed of uniform in size and shape keratinocytes with slightly purple in appearance cytoplasm. There is some hypergranulosis.   HPV subtyping was negative on this particular sample.

>

>

>

> CBC:

>

> WBC 5.7

>

> ANC 3500

>

> ALC 1700

>

> Monocytes 450

>

> Hgb 11.9

>

> Plt 376

>

> I unfortunately did not have access to a peripheral smear

>

>

>

> Lymphocyte subsets:

>

> - Increased total B cells, with increased naive B cells (96%) and decreased memory B cells

>

> - Normal number of total T cells, with:

>

>         - Decreased CD4+ T cells with resulting decreased CD4:CD8 ratio  (0.4:1)

>

>                 -  Absolute CD4 count 0.234 cells/ul

>

>         - Increased percentage of NKT cells

>

>         - No increase in alpha/beta double-negative T-cells

>

> - Decreased total NK cells

>

>                - Count 0.006 cells/ul

>

>

>

> IgE 4

>

> IgA 391

>

> IgG 291

>

> IgM 37

>

>

>

> HIV non reactive

>

>

>

> Lymph antigen/mitogen profile:

>

>    Normal Lymphocyte responses to Candida

>

>    Normal  Lymphocyte responses to Tetanus

>

>    Low-normal Lymphocyte responses to PHA.

>

>    Normal Lymphocyte responses to Con A.

>

>    Normal Lymphocyte responses to Pokeweed Mitogen.

>

>

>

> normal glucose

>

> TSH/T4 normal in 2011

>

>

>

>  His story initially made me suspect WHIM, or maybe a milder form of IPEX, but he has several abnormalities I am still unable to explain.   He is developing and growing normally, and has surprisingly never been admitted or treated for serious infections.   Any further ideas in terms of diagnostics?

>

>

>

>

>

> Thanks.

>

>

>

>

>

> Blachy

>

>

>

>

>

> Blachy J. Dávila Saldana

>

> PGY 6

>

> Pediatric Hematology/Oncology Fellow

>

> Mail Code CDRCP

>

> 3181 SW Sam Jackson Park Road, Portland OR 97239

>

> 503 494 0829

>

>

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