[CIS-PAGID] 4 month old boy with high IgE and eosinophils...

[Eleonora Gambineri]

Dear Yae Jean,

early onset diarrhea and eczema together with elevated IgE and  
eosinophils is very indicative of IPEX:
- Any results from small bowel biopsies?
- Any signs of other autoimmune manifestations (i.e. positive ATPO,  
Coombs, anti-islet Ab etc.)?
- Any results on Tregs and FOXP3 expression at FACS? Although Treg and  
FOXP3  expression can be present in IPEX and therefore this should not  
rule out molecular analysis of FOXP3.

However, CMV is more indicative of a CD25 deficiency syndrome. Are  
Treg being evaluated at FACS? Is CD25 expressed? The lack of its  
expression (differently than FOXP3 in IPEX) is very indicative of the  
disease.

I would certainly ruled out these 2 conditions first. Then I would  
certainly investigate further on HIES.

Best wishes,
Eleonora




*******************************************************************
Dott.ssa Eleonora Gambineri
Ricercatore Universitario
Universita' degli Studi di Firenze
Dipartimento di Scienze per la Salute della Donna e del Bambino- 
Ospedale Pediatrico "Anna Meyer"
Viale Gaetano Pieraccini, 24
50139 FIRENZE
Tel 055 5662405 (ufficio)
        055 5662464 (lab)
Fax 055 4221012
e-mail: eleonora.gambineri at unifi.it; e.gambineri at meyer.it

Eleonora Gambineri, MD
Researcher/Assistant Professor
University of Florence
Department of Sciences for Woman and Child's Health-"Anna Meyer"  
Children's Hospital
Viale Gaetano Pieraccini, 24
50139 FIRENZE
ITALY
Tel +39 055 5662405 (office)
        +39 055 5662464 (lab)
Fax +39 055 4221012
e-mail: eleonora.gambineri at unifi.it; e.gambineri at meyer.it
********************************************************************





On 03/gen/11, at 23:04, Bodo Grimbacher wrote:


> Dear all,

> if you want to get fancy the lack of Th17 would point towards HIES

> (STAT3 and Dock8) and the lack of Tregs would point towards IPEX.

> Certainly both belong to the dd in this chap.

> Yours,

> Bodo Grimbacher

> UCL, London, UK

>> I believe measuring TREC can be a good test to find if the child  

>> has some kind of leaky SCID

>> Amos etzioni

>> ________________________________

>> From: pagid-bounces at list.clinimmsoc.org [pagid-bounces at list.clinimmsoc.org 

>> ] On Behalf Of 김예진 [yaejeankim at skku.edu]

>> Sent: Friday, December 31, 2010 5:19 AM

>> To: pagid at list.clinimmsoc.org

>> Subject: [CIS-PAGID] 4 month old boy with high IgE and eosinophils...

>>

>>

>> Dear All,

>>

>>

>>

>> I have a question about a 4 mo old boy with chronic diarrhea,  

>> eczema, hyper IgE and eosinophilia. This is a pt of my colleagues,   

>> I already gave them my opinion but I also want to discuss the case  

>> with you all for further advice.

>>

>>

>>

>> This is a 4 mo old boy without any significant family history for  

>> PID. He developed generalized mild eczema at the age of 1 mo and  

>> developed diarrhea at 2 mo old. At 3 mo old, he also developed  

>> coughs. The child got hospitalzied.. they found hyper IgE and  

>> eosinophilia...rectal biopys revealed nothing.

>>

>> Diarrhea continued and respirtoary sx aggravated..BAL revealed PCP  

>> and CMV...

>> They did immune work-up (see below of this email).   They suspect  

>> hyper IgE...

>>

>>

>>

>> Followings are my questions. Is this a typical presentation of  

>> hyper IgE? I would think Staph pneumonia more in a pt with hyper IgE.

>> With PCP and CMV isolated and condition being improved with  

>> treatment, I would more suspect cell mediated immunity defect (fyi,  

>> HIV was negative).

>>

>> How about SCID (although lympho subset looks ok) or other cellular  

>> immunity defect? or how about IPEX? maybe hyper IgE should be ruled  

>> out anyway..

>> Maybe hypereosinophilic syndrome such as eosinophilic  

>> gastroenteritis? even in this condition, CMV and PCP infection  

>> cannot explain..I don't think hyepreosinophilic syndrom pt have  

>> increased susceptibility to PCP or CMV.

>>

>>

>>

>> I would appreciate if you give any thoughts on this case.  Thank  

>> you all.

>>

>>

>>

>> YaeJean

>>

>>

>>

>>

>> date    2010-11-08 18:15        2010-11-10 10:43        2010-11-15  

>> 14:12        2010-11-20 8:43 2010-11-29 9:49 2010-12-01  

>> 13:25        2010-12-02 11:22        2010-12-04 11:12         

>> 2010-12-08 9:39 2010-12-13 8:39 2010-12-16 10:08        2010-12-20  

>> 9:36 2010-12-23 9:22 2010-12-25 9:25

>> CRP     0.82    3.02    　       0.44    1.47    0.98    2.16     

>> 0.9     0.74    1.93    　       0.74    　       2.27

>> WBC     23.231  8.12    14.95   12.21   36.49   17.11   11.23    

>> 26.91   35.81   20.71   14.8    13.66   12.9    13.27

>> Hb      9.4     5.5     9.8     8.3     8.6     6.3     9.1      

>> 10      9.8     10      8.8     9.6     9.4     8.8

>> Platelet        551     260     107     124     227     290      

>> 317     338     450     264     296     323     220     179

>> ESR     2       　       　       2       2       2       2        

>> 4       3       2       　       2       2       2

>> Seg.neut.       42.7    38.9    33.5    30.1    28.8    38       

>> 46.1    55      29      32      70.7    36      49.5    46.8

>> Lymphocyte      48.8    53.3    46.4    42.9    48.8    27.5     

>> 36.9    12      30.2    21.8    18.7    31.5    33.6    40.8

>> Monocyte        7.9     5.7     6.2     13.4    6.9     9.2      

>> 11      8       9.4     8.8     6.2     7.2     7.9     5.8

>> Eosinophil      0.4     2       13.4    13.3    15.1    24.8     

>> 5.4     25      31.2    37.3    4.3     25.1    8.8     6.5

>> Basophil        0.2     0.1     0.5     0.3     0.4     0.5      

>> 0.6     　       0.2     0.1     0.1     0.2     0.2     0.1

>>

>>

>>

>> 　       2010-11-10 11:53        2010-11-20 9:52 2010-12-20 9:52

>> IgG     671     759     528

>> IgA     58      64      20

>> IgM     64      89      87

>>

>>

>>                2010-12-20 9:26

>>

>> CD19(B cell)    248/㎕, 6%

>> CD16/CD56(NK cell)      289/㎕, 7%

>> CD3             3784/㎕, 88%

>> CD4             2476/㎕, 57%

>> CD8             1263/㎕, 29%

>> Neutrophil DHR test

>>

>>

>>

>> normal

>>

>>

>>

>>

>> 　

>>        2010-11-08 18:14        2010-12-04 11:12        2010-12-08  

>> 9:39 2010-12-10 9:11 2010-12-13 8:39 2010-12-20 9:36

>>

>> Eos.count       130     306     11173   7345    7725    3429

>>

>> 　       2010-11-09 9:17 2010-11-20 10:01        2010-12-04  

>> 13:23        2010-12-10 10:24        2010-12-20 9:37

>> IgE(Total)      1960    740     1930    1100    264

>>

>>

>> --------------------------------------------------------------------------

>>

>> Yae-Jean Kim, MD

>>

>> Assistant Professor

>>

>> Division of Infectious Diseases

>>

>> Department of Pediatrics

>>

>> Sungkyunkwan University School of Medicine

>>

>> Samsung Medical Center

>>

>> 50 Irwon-dong Gangnam-gu

>>

>> Seoul, Korea

>>

>> Tel)  +82-2-3410-0987

>>

>> Fax) +82-2-3410-0043

>>

>>

>>

>>

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>>

>>

>>

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>


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