[CIS-PAGID] NZ infant with PJP

[Seidel Markus]

Dear Dr. Sinclair,

the history of this patient reminds me to some extent of three boys we
treated, one of whom had PjP, eczema, bronchiolitis, intermittent
diarrhea due to adeno- and CM-virus, and was diagnosed with Wiskott
Aldrich Syndrome, another one with PjP, failure to thrive, and similar
immunologic findings had an artemis defect, and the third had no PjP,
but later in the course bacterial and fungal pneumonia, neonatal
diabetes, intractable diarrhea, thyroiditis, and IPEX Syndrome... but I
am sure these clinical presentations sound much clearer and different
from your patient's at least now from the retrospect...

Kind regards,

Markus Seidel

 

Markus G. Seidel, M.D.
Assoc. Prof. of Pediatrics
Specialist in Pediatric Hematology/Oncology 
Focus Immunology & Stem Cell Transplantation
Co-Chair of the Austrian Working Party for Pediatric Immunology 
St. Anna Kinderspital and Children's Cancer Research Institute
Kinderspitalgasse 6
A-1090 Wien; Austria, EU
Tel 43-1-40170-2800; Fax 43-1-40170-7280

 

 

 

________________________________

Von: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] Im Auftrag von Jan Sinclair
(ADHB)
Gesendet: Donnerstag, 28. April 2011 01:26
An: pagid at list.clinimmsoc.org
Betreff: [CIS-PAGID] NZ infant with PJP

 

Dear PAGID members

 

Would appreciate any thoughts on a male infant, now 6 months old.   New
Zealand born, South East Asian parents, non consanguineous. 1st child to
this couple.   Early oral candida, responding to treatment but recurring
each time treatment stopped. 

 

He presented at 3 months of age with:  

*          Pneumocystis pneumonia, problematic course needing prolonged
intensive care stay, complicated by biopsy proven pulmonary alveolar
proteinosis (managed with repeated pulmonary lavage), now well from a
respiratory point of view.

*          Failure to thrive and chronic diarrhoea.  Negative for all GI
pathogens (bacterial and viral including PCR), upper and lower scope
with normal pathology on 2 occasions.  Diarrhoea improved with TPN and
now gaining weight but unable to transition back to oral feeds. 

 

Investigations:

*         Thymus present on first CXR

*         Normal / raised lymphocyte count (most often 6-12 x 109/l)

*         No rash, no hepatosplenomegaly, and no adenopathy 

*         Mild metaphyseal dysplasia, skeletal survey otherwise no
abnormality

*         Phenotype (repeated over time and essentially unchanged)

CD4      49    %           Absolute CD4      6138    X10E6/L

CD8      22    %           Absolute CD8      2755    X10E6/L

CD4:CD8 ratio      2.2

CD3      70    %           Absolute CD3      8823    X10E6/L

CD19      27    %         Absolute CD19      3451    X10E6/L

CD56      2    %           Absolute CD56      297    X10E6/L

*         TREC                                normal

*         Vb repertoire                     polyclonal

*          No maternal engraftment

*          Immunoglobulins               presentation    Feb      Mar
Now

IgG                               1.7                   IVIG      IVIG
IVIG
IgA                               0.29                 0.48     <0.07
0.11

IgM                               0.06                 1.8       0.17
0.12

*          CD40L normal

            

Proliferation:

At presentation                       PATIENT
CONTROL

                                    cpm                 SI
cpm                 SI 

Background                 122
26

PHA                             1409                11.5
27539              1059.2

CON A                         1747                14.3
7265                279.4

CD3 Response           67                    0.5                   4696
180.6

 

On repeat testing these have improved markedly, most recently:

                                     PATIENT       SI
Control          SI

Background                 432                                       70


PHA                             138930         321
111031         1586

T3                                16128           37
47781           683

PMA                             3931             9
9100             130

Ionomycin                    320               1
238               3

PMA + Ionomycin        47755           110                  229807
3283

 

 

The initial thought was that he may have a T cell activation defect.
Calcium flux studies were kindly undertaken by Prof Stefan Feske in New
York, which were normal, excluding ORAI1 or STIM1 as the underlying
defect.

 

Early in his course the plan was to consider HSCT, with good cord
matches available.  We are currently not hurrying in that direction,
with normalisation of his proliferation, a slew of other normal
investigations, and no diagnosis.  However he is still TPN dependent and
his immunoglobulin results suggest loss of IgA and M production.

 

Any thoughts (underlying defect / other investigations / treatment
options) would be welcome. 

 

Dr Jan Sinclair

Paediatric Immunology

Starship Children's Hospital

Auckland, New Zealand

Ph            (64 9) 307 8900 extension 6429

Fax          (64 9) 307 8977 (internal 5977)

Mobile      021 365 445

 

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