[CIS PIDD] What's your comments

[Safa baris]

Thanks for your recommendation.


> Date: Sun, 22 Jul 2012 12:52:22 -0300

> From: dmvascon at usp.br

> To: pagid at list.clinimmsoc.org

> Subject: Re: [CIS PIDD] What's your comments

> 

> Dear Dr. Baris

> 

> I think that AICD and UNG mutations are possible in your patient, but  

> in these diseases the germinal center tends to be hyperplasic, leading  

> to lymphadenomegaly.

> 

> On the other hand, another possibility should be hypomorphic mutations  

> in enzymes associated to class-switch recombination such as RAG or  

> other DNA repair enzymes such as artemis, cernunnos, etc. This could  

> explain the low B cells. It is also interesting to look for IgM  

> autoantibodies.

> 

> The 2009 immunophenotyping presents some inconsistencies, such as  

> CD4+CD8 T cells are much lower than CD3, even adding the double  

> negatives. Moreover, alpha-beta + gamma-delta also is inconsistent to  

> CD3+ T cells

> 

> Another possibility is the use of corticosteroids, that could  

> influence T and B cell counts.

> 

> You can contact Dr. Anne Durandy at Hospital Necker in Paris.

> 

> Best regards,

> 

> Dewton Vasconcelos

> University of São Paulo School of Medicine

> 

> 

> Citando Safa baris <safabaris at hotmail.com>:

> 

> >

> >

> >

> >

> >

> > 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 ?/?+ 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 BAR?S

> >

> > MARMARA UNIVERSITY,

> >

> > D?V?S?ON OF PEDIATRIC ALLERGY and IMMUNOLOGY, ISTANBUL/TURKEY

> >

> >

> >

> >

> >

> >

> 

> 

> 

 		 	   		  
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