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

[Church, Joseph]

IgE level?

Joe Church
Children's Hospital Los Angeles

-----Original Message-----
From: Eli Eisenstein [mailto:emeisenstein at gmail.com] 
Sent: Thursday, January 17, 2013 6:02 AM
To: CIS-PIDD
Subject: [cis-pidd] infections, rash, failure to thrive, recurrent hyperosmolar dehydration

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-àR 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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