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  #1  
Old 08-24-2011
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Immunology Immunodeficiency and Atopy!

A 12-year-old Indian boy presents with recurrent lung and skin Staphylococcal infection, relieved by Penicillin treatment at each time. He had history of eczematoid dermatitis, connective tissue abnormalities, but normal wound healing, since the newborn period. Patient did not typically have significant atopy with regard to foods or seasonal allergens. In physical examination he had retained primary teeth and coarce faces. Laboratory data included increased levels of IgE and eosinophils with normal levels of T- and B-cell lymphocytes, platelets and Red blood cells. Chest CT imaging revealed pneumatoceles and brain MRI also demonstrated focal T2 hyperintensities. What is the the pathophysiologic mechanism underlying this disease?

A) Mutation in FAS gene on chromosome 10
B) Mutation in WAS gene on chromosome X
C) Mutation in STAT3 gene on chromosome 4
D) Mutation in CD40L gene on chromosome X
E) Mutation in RAG gene on chromosome 11
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  #2  
Old 08-24-2011
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it's job's syndrome should we really know that mutation gene?!
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Old 08-24-2011
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The hyper-IgE syndromes have multiple genetic bases. The majority of patients have dominant mutations in the signal transducer and activator of transcription 3 (STAT3) gene
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Old 08-25-2011
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i think its c
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Old 08-25-2011
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The Clinical scenario describes Job's Syndrome/ Hyper IgE syndrome... in this case the problem is with STAT - so that would be C
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Old 08-25-2011
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i m guessing c too
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Old 08-25-2011
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E) Mutation in RAG gene on chromosome 11[/QUOTE]
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  #8  
Old 08-28-2011
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Quote:
Originally Posted by plasticsurgeon View Post
E) Mutation in RAG gene on chromosome 11
[/QUOTE]


This is Job Syndrome... Hyper IgE + Eczema + Coarse Faces + Retained teeth + Recurrent cold abscesses (Staph) + Eosinophilia + Normal B and T cells
Mutation in STAT3 gene on Chromosome 4 is correct.
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Old 08-29-2011
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lol i thought it was job's syndrome as well. but i had no idea about the gene!
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Old 08-29-2011
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It is Job Syndrome, and the mutation is on Cr 4 STAT 3... good one! The official name of this gene is “signal transducer and activator of transcription 3 (acute-phase response factor).”
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Old 08-29-2011
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Quote:
Originally Posted by m82_ghasemi View Post
A 12-year-old Indian boy presents with recurrent lung and skin Staphylococcal infection, relieved by Penicillin treatment at each time. He had history of eczematoid dermatitis, connective tissue abnormalities, but normal wound healing, since the newborn period. Patient did not typically have significant atopy with regard to foods or seasonal allergens. In physical examination he had retained primary teeth and coarce faces. Laboratory data included increased levels of IgE and eosinophils with normal levels of T- and B-cell lymphocytes, platelets and Red blood cells. Chest CT imaging revealed pneumatoceles and brain MRI also demonstrated focal T2 hyperintensities. What is the the pathophysiologic mechanism underlying this disease?

A) Mutation in FAS gene on chromosome 10
B) Mutation in WAS gene on chromosome X
C) Mutation in STAT3 gene on chromosome 4
D) Mutation in CD40L gene on chromosome X
E) Mutation in RAG gene on chromosome 11
should be C
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