[CIS PIDD] [cis-pidd] interesting case

[David Buchbinder]

Dear Colleagues,
I have a interesting case that would benefit from some input -
7 year old Latino male referred for continuation of IVIG therapy.   He
has a history of recurrent respiratory tract infections and cytopenias. 
He was treated with IVIG for some time although this was discontinued. 
He also has marked neutropenia -  multiple marrow exams done with some
diminished celluarity at time 50-70%.  No maturational arrest.  Some
hemophagocytes noted. 

Consanguinity is noted.  A brother was diagnosed at 3 yrs of age with
disseminated varicella and pneumonia requiring mechanical ventilation. 
Noted to be lymphopenic at that time.  Treated with IVIG for a short
period of time.  Now doing “fine” and lost to follow-up.  He also has 2
sisters that are healthy.  
I reinitiated IVIG (his IgG was low at around 537, IgA 29, IgM < 25). 
His Ab responses were low – tetanus 0.049, Hib < 0.11,  Strep pneumonia
titers all  <0.3.   He is pan-lymphopenic. 
CD4 / CD8   rato  0.4 
CD3 %  90.0
CD3 absolute  0.485
CD19  %  4.0
 
CD19 absolute 0.024
 
CD45%  100.3
 
CD3 CD4  % 24.0
 
CD3 CD4 absolute  0.131
 
CD3 CD8 %  55.0
 
CD3 CD8 absolute 0.297
 
ABS NK cells 6.0
 
CD3- CD16+ CD56+ absolute  0.032
 
Decreased proportions of naïve CD4 and CD8 T cells were also noted. 
Mitogen studies are abnromal.  NK function is also absent.  He remains
on GCSF.  
Some work up had been done including a few genetic analyses (CD40L,
WAS, Perforin) - these were negative.  
Any suggestions / comments are welcome.
Sincerely,
Dave Buchbinder, MD
Division of Hematology
CHOC Children's Hospital
 
  
 

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