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

[John Ziegler]

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
[cid:image001.jpg at 01D075DD.166F00A0]

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>



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