[CIS PIDD] [cis-pidd] infections, rash, failure to thrive, recurrent hyperosmolar dehydration
stephan.ehl at uniklinik-freiburg.de
stephan.ehl at uniklinik-freiburg.de
Thu Jan 17 10:59:38 EST 2013
Consider NEMO,
Stephan Ehl
----- Originalnachricht -----
Von: Elif Dokmeci [edokmeci at gmail.com]
Gesendet: 17.01.2013 08:47 MST
An: "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org>
Betreff: Re: [cis-pidd] infections, rash, failure to thrive, recurrent hyperosmolar dehydration
Hi Eli,
Is this a male infant?
Eosinophilia in blood?
Diarrhea?
I would study FOXp3 gene to rule out IPEX.
Neutropenia?
Throid ab`s, coombs positive anemia?
Elif Dokmeci
On Thu, Jan 17, 2013 at 7:01 AM, Eli Eisenstein <emeisenstein at gmail.com>wrote:
> Hello to all,
>
> We are seeking help concerning a 4.5 month old Palestinian Arab
> infant, parents first cousins. Two sibs have mild non-ketotic
> hypergyceinemia, the patient does not.
>
> Clinical phenotype
>
> Recurrent invasive bacterial infections beginning during the first
> weeks of life:
> MRSA bacteremia
> Peri-anal abscess (Pseudomonas, enterobacter)
> Pneumonia, Burkhoderia cepacia cultured from purulent BAL. There is
> some question as to whether this organism was a contaminant, as it was
> identified in BAL fluid from other patients around the same time.
>
> Diffuse seborrheic derm, steroid responsive, atrichia
>
> Failure to thrive with loose stools. Three acute bouts of
> gastroenteritis with fever resulting in severe hyperosmolar
> dehydration within hours.
>
> In addition congenital heart disease- huge ASD with L-R shunt and
> pulmonary hypertension.
>
>
> Immune workup thus far:
>
> Thymus radiographically present
>
> IgM- 1310, IgA-126, IgG-1310
>
> Immunophenotype
> CD2 4220
> CD3 3720
> CD4 2290
> CD8- 1430
> CD3 CD45RA- 5580
> CD3CD45RO- 620
> CD19 1364
> CD20 1300
> CD18 99%+
> HLADR 1612
> CD56+16 1180
>
> Normal lymphocyte proliferative responses to lectin mitogens,
> antigen/IL2 stim not done.
>
> Limited colonoscopy- no IBD
> Endoscopy- macroscopic duodenitis, microscopy non-specific
>
>
>
> Additional studies graciously performed by our colleagues at other
> centers in Israel include the following:
>
> DHR- normal. Normal PMN morphology and chemotaxis.
>
> TREC quantitative – 754 copies/0.5 mcg DNA (normal for lab >400)
>
> CD25, FoxP3 staining comparable to control. Normal glucose. TSH
> moderately elevated, autoantibody studies negative. IgE 16, 100 two
> months later.
>
> Staining of 24 TCRVb families showed significant skewing. In
> particular among CD3CD8+ cells several Vb were not represented, 40% of
> cells Vb23+.
>
> Evaluation by FISH and STR negative for materno-fetal engraftment
>
>
> In short, this child appears to have some form of PID but we do not
> feel we have immunologic proof. We are considering WES. Other
> suggestions appreciated.
>
> Thanks
>
> Eli Eisenstein
> Hadassah
> Israel
>
> ---
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--
Elif Dokmeci, MD
Allergy and Immunology
Assistant Professor of Pediatrics
University of New Mexico Children's Hospital
Phone: 505 272 8185
Fax: 505 272 4549
---
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