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

[Waleed Al-Herz]

I think MHC II deficiency should be r/o given the low CD4 count, enteropathy and SC which could be due to crypto. However, the normal T stimulation response using antigen is unusual. 

Waleed Al-Herz, MD
Clinical immunologist
Kuwait

Sent from my iPhone

On Jan 11, 2013, at 8:13 PM, "Blachy Davila-Saldana" <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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