[CIS PIDD] What's your comments

[dmvascon at usp.br]

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>:


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> Dear all,

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> Please can you input your comments about the patient:

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> 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.

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>   Age

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>   WBC

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>   ANC

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>   ALC

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>   HB

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>   PLT

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>   ESR

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>   AST

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>   ALT

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>   21.9.05

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>   24 year

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>   11700

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>   13

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>   58000

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>   7.12.08

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>   27year

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>   8400

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>   10,4

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>   360000

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>   11.6.12

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>   28year

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>   14000

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>   10,8

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>   227000

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>   66

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>   44

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> IgA: <20 mg/dl (139-378), IgM: 596 mg/dl

> (88-322), IgG: 1290 g/dl (913-1884) under IVIG

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

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> 3.4 mikrog antikor/ml

> (post-vaccination)

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> FACS 11.1.09:

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> ALC:3600

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> CD3: 64%

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> CD3+CD4: 14%

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> CD3+CD8: 40%

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> CD19: <1%

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> CD16+56: 22%

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> Alfa-beta TCR:46%

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> Gamma-delta TCR: 2%

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> 4% double negatif T cell.

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> CD40: low expression compare to control

> (CD19-20 lower than <1%)

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>  FACS (9.4.12):

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> WBC: 3600/mm3

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> CD3: %71

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> CD3+CD4: %21

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> CD3+CD8: %49

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> CD19: <1%

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> CD16+56: 21%

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> 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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