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

[Notarangelo, Luigi]

Dear YaeJean:

The clinical presentation is suggestive of a combined immunodeficiency, possibly a leaky fom of SCID. As you pointed out, this boy has a good number of T/B/NK cells, but adding naïve/memory distribution and a T cell function would be good. You may also want to confirm that T cells are not of maternal origin (although if you show that he a good number of naïve T cells, maternal T cell engraftment would become very unlikely)
The phenotype is certainly not suggestive of the “canonical” hyper-IgE syndrome (STAT3 mutation), but I would consider DOCK8 deficiency as a possibility, although most of these patients have low IgM (and this child does not).
It is interesting that he has normal Ig levels, which is the main element against a diagnosis of leaky SCID (though normal Ig levels have been  occasionally seen in patients with leaky SCID).



Luigi D. Notarangelo, M.D.
Jeffrey Modell Chair of Pediatric Immunology Research in Boston
Director, Research and Molecular Diagnosis Program on Primary Immunodeficiencies
Division of Immunology, Children's Hospital
Professor of Pediatrics and Pathology, Harvard Medical School
Karp Building, 9th floor, Rm 09210
1 Blackfan Circle
Boston, MA 02115
USA

(tel) (617)-919-2276
(fax) (617)-730-0709


Secretary: Luisa Raleza
email: luisa.raleza at childrens.harvard.edu



On 12/30/10 10:19 PM, "김예진" <yaejeankim at skku.edu> wrote:

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