[CIS PIDD] What's your comments

[Safa baris]

Dear all,

Please can you input your comments about the patient: 



A 28 year
old young woman had been followed up with a diagnosis of common variable immune
deficiency (?) since 6 years old. She had bronchiectasis, hepatomegaly, growth
retardation, recurrent arthritis and recurrent diarrhea. She has received systemic
steroid treatment due to inflammatory bowel disease for 8 years starting at age
of 15 years.  She had recurrent and
persistent LAPs at abdomen and head & neck region. Mesenteric lymph node
biopsy revealed marginal zone lymphoma and she was started on chemotherapy when
she was 24 years old. Re-evaluation of the specimens revealed no lymphoma.
Later on, she had splenectomy operation due to refractory thrombocytopenia and
huge splenomegaly. Recently, she underwent a repeat laparotomy operation for
enlarged lymph nodes at multiple sites in her abdomen, which revealed T cell
hyperplasia with defective germinal center formation and plasma cell
differentiation. Immunologic evaluation revealed decreased IgA, IgG levels and
increased IgM. Peripheral blood lymphocyte subset analysis revealed a decrease
in CD4+  T cell and B cell
numbers, and an increase in α/β+ DNT cell  numbers (4%). During the follow-up she
admitted with fever and arthritis in multiple joints. The blood cultures were
negative for bacteria and fungus. She was thought as rheumatoid arthritis and
treatment with steroid. After 2 months of therapy the arthritis resolved
without any complication. She is currently on IVIG treatment and uses
prophylactic antibiotics.

 


 
  
   
  
  
  Age
  
  
  WBC
  
  
  ANC
  
  
  ALC
  
  
  HB
  
  
  PLT 
  
  
  ESR
  
  
  AST
  
  
  ALT
  
 
 
  
  21.9.05 
   
  
  
  24 year
  
  
  11700
  
  
   
  
  
   
  
  
  13
   
  
  
  58000
  
  
   
  
  
   
  
  
   
  
 
 
  
  7.12.08
  
  
  27year
  
  
  8400
  
  
   
  
  
   
  
  
  10,4
  
  
  360000
  
  
   
  
  
   
  
  
   
  
 
 
  
  11.6.12
  
  
  28year
  
  
  14000
  
  
   
  
  
   
  
  
  10,8
  
  
  227000
  
  
   
  
  
  66
  
  
  44
  
 
 
  
   
  
  
   
  
  
   
  
  
   
  
  
   
  
  
   
  
  
   
  
  
   
  
  
   
  
  
   
  
 
 
  
   
  
  
   
  
  
   
  
  
   
  
  
   
  
  
   
  
  
   
  
  
   
  
  
   
  
  
   
  
 


 

 

IgA: <20 mg/dl (139-378), IgM: 596 mg/dl
(88-322), IgG: 1290 g/dl (913-1884) under IVIG

 

Pneumococal response:  Ig G: 5.2 mikrog/ml (pre-vaccination), 

3.4 mikrog antikor/ml
(post-vaccination)

 

FACS 11.1.09:  

 

ALC:3600

CD3: 64%

CD3+CD4: 14%

CD3+CD8: 40%

CD19: <1%

CD16+56: 22%

Alfa-beta TCR:46%

Gamma-delta TCR: 2%

4% double negatif T cell.

CD40: low expression compare to control
(CD19-20 lower than <1%) 





 FACS (9.4.12):

WBC: 3600/mm3 

CD3: %71

CD3+CD4: %21

CD3+CD8: %49 

CD19: <1%

CD16+56: 21%


The questions are:

1- Is this patients can HIGM syndrome (AID or UNG) -- the LAP biopsy revealed T cell hyperplasia with defective germinal center formation (?).

2- How can you explain the very low B cell with high IgM levels 


SAFA BARİS

MARMARA UNIVERSITY, 

DİVİSİON OF PEDIATRIC ALLERGY and IMMUNOLOGY, ISTANBUL/TURKEY





 		 	   		  
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