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

[Seppänen Mikko]

WES sounds good. Howvere, concerning CGH, karyotype and PIDD, 

they are worthwhile often, will reval not only most partial diGeorges, but also other microdeletion/translocation syndromes with variable PIDDs like those including heavy chain locus, Wolf-Hirschhorn, 18q sdr, Xq22, Smith-Magenis, Jacobsen, Turner, t(11;16)(q24.2;q24.1), ICF.... (not all have dysmorphic features). In general, we will probably continue to have surprises in this area now that CGH has become widely available and cheaper. They are still cheaper than WES.

mikko seppänen, Finland 

-----Alkuperäinen viesti-----
Lähettäjä: Eli Eisenstein [mailto:emeisenstein at gmail.com] 
Lähetetty: 21. tammikuuta 2013 9:55
Vastaanottaja: CIS-PIDD
Aihe: Re: [cis-pidd] infections, rash, failure to thrive, recurrent hyperosmolar dehydration

Many thanks to all who commented.

Regarding gender, the patient is a baby boy, sorry for the oversight.

IgE was 16 at 6 weeks , Increased to 100 at four months of age. Coombs was transiently positive but is now negative. No other autoantibodies have been detected. Thrombocytosis is present with normal platelet volume, normal eosinophil counts, there is moderate granulocytosis.

Concerning the possibility of non-immunologic diagnoses, there is no
dysmorphism. NKH has been specifically excluded.    We will ask our
metabolic service to revisit the issue of possible mitochondrial disease. Cystic fibrosis was suggested by another consultant, hypernatremia notwithstanding, we plan to rule this out by electrophysiologic studies.

Given the limitations of our flow cytometry lab, we are planning WES.
If unrevealing we will try other approaches.

I will post again if and when something turns up.

Thanks again


Eli



On 1/20/13, Keller, Michael D <KellerMD at email.chop.edu> wrote:

> Dear Eli:

>

> MyD88 / IRAK4 might be another consideration.   Many but not all will lack

> fever.

>

> Mike

> ________________________________________

> From: Seppänen Mikko [Mikko.Seppanen at hus.fi]

> Sent: Friday, January 18, 2013 4:09 AM

> To: CIS-PIDD

> Subject: VS: [cis-pidd] infections, rash, failure to thrive, recurrent 

> hyperosmolar dehydration

>

> Dear Eli,

>

> atrichia+, how about nail atrophy???

>

> Consanguinity+, You might need to think of the whole EDA-ID complex i.e.

> besides NEMO also IKBA, CHH (short stature takes 9 months to 2 years 

> to be recognizable)is a possibility like mentioned, since bamboo hair 

> may break underneath the scalp even Netherton/SPINK5 springs to mind 

> (the ID may be severe when very young).

>

> As You know, NBS/Nijmegen Breakage may have sparse hair, results do 

> not fit the described WHN SCID patients who have atrichia.

>

> Yet, congenital heart defect + atrichia + PIDD + neonatal rash - all 

> together ???

>

> No concomitant CHARGE association????

> I would thus also perform , (besides exome seq) also/first karyotype 

> and comparative genomic hybridization (CGH), some obscure 

> microdeletion including some of the above-mentioned genes for example??

> Intriguing, let us know if You find the cause(s)? Hope this helps,

>

> mikko seppänen, Finland

>

> -----Alkuperäinen viesti-----

> Lähettäjä: Eli Eisenstein [mailto:emeisenstein at gmail.com]

> Lähetetty: 17. tammikuuta 2013 16:02

> Vastaanottaja: CIS-PIDD

> Aihe: [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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