[CIS PIDD] [cis-pidd] infections, rash, failure to thrive, recurrent hyperosmolar dehydration

[Elif Dokmeci]

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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