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

Mon Apr 13 14:04:46 EDT 2015

I think the "abnormal" or "artifact" found in the CD40L test, might be
considered to be repeated. Because of the age, normal IgG could be
missleading. And the clinical picture might well fit CD40L deficiency.

Best regards,

On Sun, Apr 12, 2015 at 11:47 PM, John Ziegler <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
>
> On 13 Apr 2015, at 12:05 pm, Dokmeci, Elif <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> 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 <j.ziegler at unsw.edu.au>*
>
>
>
>
>
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-- 
Armando Partida Gaytán
e.diuxe at gmail.com
dr.partida.g at gmail.com

*Alergia e Inmunología Clínica Pediátrica*
*Hospital Infantil de México Federico Gómez*
*Inmunodeficiencias Primarias*
*Instituto Nacional de Pediatría*
*Maestría en Ciencias Médicas*
*Universidad Nacional Autónoma de México*

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