[CIS PIDD] [cis-pidd] JC is a 10 week old boy presenting with PJP, failure to thrive and possible developmental delay.

Mon Apr 13 01:22:22 EDT 2015

Beside channelopathies I also suggest defects in the nfkb pathway nearly all card11 children presented with pjp and normal lymphocytes. Did you have a chance to test proliferation after anti cd3/cd28 stimulation? Also the B cell phenotype was more informative than the the T cell phenotype except that these children are lacking tregs.
Klaus

Sent from my iPhone

On 13 Apr 2015, at 06:48, John Ziegler <j.ziegler at unsw.edu.au<mailto:j.ziegler at unsw.edu.au>> wrote:

Dear Elif

Our list looks OK. I agree those genes are important. Thanks for your input.

ADA, AK2, AP3B1, CASP8, CD3D, CD3E, CD3G, CHD7, CD8A, CIITA, CORO1A, DCLRE1C, DOCK8, FOXN1, FOXP3, IKZF1, IL2RG, IL7R, ITK, JAK3, LCK, LIG4, LYST, NHEJ1, ORAI1, PNP, PRF1, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RFXAP, RMRP, SH2D1A, STAT5B, STIM1, STX11, STXBP2, TAP1, TBX1, TTC7A, UNC13D, XIAP, ZAP70.

Best wishes

John
___________________________
Professor John B. Ziegler, AM
Department of Immunology & Infectious Diseases
Sydney Children's Hospital
High St., Randwick NSW 2031
Australia
T: (02) 93821515
F: + 61 + 2 93821580
E: j.ziegler at unsw.edu.au<mailto:j.ziegler at unsw.edu.au>

On 13 Apr 2015, at 12:05 pm, Dokmeci, Elif <elif.dokmeci at yale.edu<mailto:elif.dokmeci at yale.edu>> wrote:

My impression is that the patient clinically looks like a combined ID case. I believe Baylor SCID panel does not check CRAC channel mutations (ORAI1 and STIM1) which, just like your case have severe immunodeficiency despite normal leukocyte numbers. If there is any muscle symptoms (mainly hypotonia) and autoimmunity, I would consider looking at these mutations as well.

Elif Dokmeci

Sent from my iPhone

On Apr 12, 2015, at 9:29 PM, John Ziegler <j.ziegler at unsw.edu.au<mailto:j.ziegler at unsw.edu.au>> wrote:

Dear Colleagues

We would very much appreciate your advice and help regarding JC,  a 10 week old boy presenting with PJP, failure to thrive and possible developmental delay.

This is the brief story:

12 week old ex-term, non-dysmorphic son of non-consanguineous South East Asian parents who had presented at 1 month with low-grade fevers of unclear aetiology; he had a urine with a small number of organisms but no bacteria was ever isolated and he was not treated with antibiotics).  He then appeared to fail to thrive and eventually presented with at 2 months with respiratory distress, a diffusely abnormal x-ray and had significant amounts of PJP identified on BAL.  He has a rotavirus in his stool (3 weeks post-vaccination with Rotarix) but subsequently cleared this.  He is very small (3.7 Kg << 3rd centile).  His head is also small but symmetrical to his body.  Our neurologists feel that he is hypertonic and we are beginning a workup.
Immunological workup includes,

  *   Elevated IgG = 11.7g/L, IgA = 0.98g/L, IgM = 2.66g/L, IgE 45g/L
  *   Normal lymphocyte count2.8-7.6x109/L
  *   Normal B-cells = 0.77 x109/L  and NK cells = 0.15 x109/L
  *   Mildly low CD4 = 0.88 x109/L and CD8 = 0.37 x109/L but with relatively normal ratio (40% and 17% respectively)
  *   High percentage of CD45RA cells, normal TRECs, normal polyclonal Vbeta subsets.
  *   PHA (performed on 1mg/kg steroids) was very impaired at low PHA concentrations, but normalised at higher PHA concentration (see below).
  *   Normal phosphorylation of STAT5 in response to both IL-2 and IL-7.
  *   CD3 epsilon, MHC II TCRab normal expression.
  *   CD40L, plot left shifted compared to control with many of the cells in the negative area of the graph (presumed normal with artefact)
  *   HIV negative
  *   ADA, PNP normal
  *   Gene panel sent (Baylor SCID panel)
  *   FISH for maternal engraftment and 22q11 pending

Other Infectious screen negative
CMV negative, ophthalmology review normal.

PHA Concentration

0

1:80

1:40

1:16

1:8

1:4

JC

276

868

3017

52613

151307

134613

Control

435

32710

52612

111850

128736

152747

                                      CONTROL RED, PATIENT BLUE
<image001.jpg>

John

Professor John B. Ziegler, AM
Department of Immunology & Infectious Diseases
Sydney Children's Hospital
High St., Randwick NSW 2031 Australia
T: (02) 93821515
F: + 61 + 2 93821580
E: j.ziegler at unsw.edu.au<mailto:j.ziegler at unsw.edu.au>

---

You are currently subscribed to cis-pidd as: elif.dokmeci at yale.edu<mailto:elif.dokmeci at yale.edu>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396515.52f2b67251843ea5ea795664464601bd&n=T&l=cis-pidd&o=2751983<https://urldefense.proofpoint.com/v2/url?u=http-3A__cts.dundee.net_u-3Fid-3D96396515.52f2b67251843ea5ea795664464601bd-26n-3DT-26l-3Dcis-2Dpidd-26o-3D2751983&d=AwMFAg&c=-dg2m7zWuuDZ0MUcV7Sdqw&r=UMJI_QlyDs27y5Fy0ZgVwjWPJwDhy1O55FtYHzBNTKs&m=rNwUOUBkGejekvqpKmPtYE4v9sTI9SFdSP1Pqy-My8s&s=_3UKexbgQ46jvmYtd39UB_p2agUvaPJ-Jz9WRk_ttwI&e=>

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-2751983-96396515.52f2b67251843ea5ea795664464601bd at lyris.dundee.net<mailto:leave-2751983-96396515.52f2b67251843ea5ea795664464601bd at lyris.dundee.net>

---

You are currently subscribed to cis-pidd as: j.ziegler at unsw.edu.au<mailto:j.ziegler at unsw.edu.au>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396640.adcca036b6460aa865f1c3c405d26562&n=T&l=cis-pidd&o=2752035

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-2752035-96396640.adcca036b6460aa865f1c3c405d26562 at lyris.dundee.net<mailto:leave-2752035-96396640.adcca036b6460aa865f1c3c405d26562 at lyris.dundee.net>

---

You are currently subscribed to cis-pidd as: klaus.warnatz at uniklinik-freiburg.de<mailto:klaus.warnatz at uniklinik-freiburg.de>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396739.7234c12c7ceaae309b1efdcc547eb620&n=T&l=cis-pidd&o=2752377

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-2752377-96396739.7234c12c7ceaae309b1efdcc547eb620 at lyris.dundee.net<mailto:leave-2752377-96396739.7234c12c7ceaae309b1efdcc547eb620 at lyris.dundee.net>

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=2752428
or send a blank email to leave-2752428-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20150413/7ccc4067/attachment-0001.html>