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

[raas0027 at umn.edu]

Dear Yae-Jean,

1. Certainly Hyper-IgE (STAT3 mutation) can present this way; we have a 
child who presented quite similar and was found to have a common STAT3 
mutation. Impaired cell-mediated immunity is/can be part of the phenotype.

2. Until diagnosis is confirmed other immune deficiencies that can be 
associated with infantile rash, elevated IgE and/or eosinophilia such as 
atypical presentation of Omenn syndrome, IPEX, WAS or even zinc deficiency 
should at least be considered and ruled out.

Hope to hear follow-up on the diagnosis!

Regards,

-jason

-- 
Jason Raasch, MD

Midwest Immunology Clinic
15700 37th Ave N
Suite 110
Plymouth, MN 55446

(Phone) 763.577.0008




On Jan 3 2011, 김예진 wrote:


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>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 date2010-11-08 18:152010-11-10 10:432010-11-15 14:122010-11-20 
8:432010-11-29 9:492010-12-01 13:252010-12-02 11:222010-12-04 
11:122010-12-08 9:392010-12-13 8:392010-12-16 10:082010-12-20 
9:362010-12-23 9:222010-12-25 
9:25CRP0.823.02　0.441.470.982.160.90.741.93　0.74　2.27WBC23.2318.1214.9512.2136.4917.1111.2326.9135.8120.7114.813.6612.913.27Hb9.45.59.88.38.66.39.1109.8108.89.69.48.8Platelet551260107124227290317338450264296323220179ESR2　　2222432　222Seg.neut.42.738.933.530.128.83846.155293270.73649.546.8Lymphocyte48.853.346.442.948.827.536.91230.221.818.731.533.640.8Monocyte7.95.76.213.46.99.21189.48.86.27.27.95.8Eosinophil0.4213.413.315.124.85.42531.237.34.325.18.86.5Basophil0.20.10.50.30.40.50.6　0.20.10.10.20.20.1
　2010-11-10 11:532010-11-20 9:522010-12-20 
9:52IgG671759528IgA586420IgM648987 2010-12-20 9:26CD19(B cell)248/㎕, 
6%CD16/CD56(NK cell)289/㎕, 7%CD33784/㎕, 88%CD42476/㎕, 57%CD81263/㎕, 
29%Neutrophil DHR test normal 　2010-11-08 18:142010-12-04 11:122010-12-08 
9:392010-12-10 9:112010-12-13 8:392010-12-20 
9:36Eos.count13030611173734577253429　2010-11-09 9:172010-11-20 
10:012010-12-04 13:232010-12-10 10:242010-12-20 
9:37IgE(Total)196074019301100264--------------------------------------------------------------------------Yae-Jean
Kim, MDAssistant ProfessorDivision of Infectious DiseasesDepartment of 
PediatricsSungkyunkwan University School of MedicineSamsung Medical 
Center50 Irwon-dong Gangnam-guSeoul, KoreaTel) +82-2-3410-0987 Fax) 
+82-2-3410-0043

(FAX)   763.5770192