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

[Dr. Carsten Speckmann]

  Early onset eczema seems to be a possible key feature in this child 
(but you have judged Omenn syndrome, IPEX(like) syndrome and 
maternal-fetal engraftment unlikely).
The Hyper IgE Syndromes (STAT3 and in this consanguineous background 
also DOCK8) might be worth considering - IgE levels seem to increase in 
you patient.
Also the recently described child with WIP deficiency has some parallels 
with your patient (plt count? plt volume was not affected in the 
reproted child). Maybe you can do WASP expression by flow?
Lanzi G et al. A novel primary human immunodeficiency due to deficiency 
in the WASP-interacting protein WIP. J Exp Med 2012;209:29–34.

Best wishes, Carsten Speckmann

- -
Dr. med. Carsten Speckmann
Facharzt
Zentrum fuer Kinderheilkunde und Jugendmedizin
Centrum fuer Chronische Immundefizienz - CCI
Universitaet Freiburg
Mathildenstr. 1
79106 Freiburg
Germany

phone: +49 (0)761-270 43010
mail: carsten.speckmann at uniklinik-freiburg.de



Am 17.01.13 15:01, schrieb Eli Eisenstein:

> 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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