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Old 08-18-2011
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A 14-year-old female is brought to her pediatrician by her parents for evaluation of recurrent staphylococcal infections. Physical examination reveals a skin finding shown in this image. Further evaluation shows retained primary teeth, coarsened facies and scoliosis. What is her most likely diagnosis?
A. Interleukin 12 Receptor Deficiency
B. Severe Combined Immunodeficiency
C. Wiskott-Aldrich Syndrome
D. Hyper IgM Syndrome
E. Job’s Syndrome
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jobs syndrome
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Old 08-18-2011
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E. Job’s Syndrome
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Job Syndrome, The retained hint gave away the question...
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Originally Posted by ricko335 View Post
A 14-year-old female is brought to her pediatrician by her parents for evaluation of recurrent staphylococcal infections. Physical examination reveals a skin finding shown in this image. Further evaluation shows retained primary teeth, coarsened facies and scoliosis. What is her most likely diagnosis?
A. Interleukin 12 Receptor Deficiency
B. Severe Combined Immunodeficiency
C. Wiskott-Aldrich Syndrome
D. Hyper IgM Syndrome
E. Job’s Syndrome
E) job's syndrome.....mnemonic
FATED: coarse facies, cold staph abscesses, retained primary teeth, increased IgE, and dermatologic problems [eczema]
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Old 08-18-2011
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E. Job syndrome
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The child’s presentation of recurrent staphylococcal infections, eczema (shown in the figure), retained primary teeth, coarsened facies and scoliosis are consistent with Job’s syndrome. Hyper IgM syndrome is caused by a defect in CD40 ligand on CD 4 T helper cells leading to an inability to class switch. Wiskott-Aldrich syndrome is an X-linked recessive defect with poor antibody response to polysaccharide antigens. Interleukin 12 receptor deficiency presents with disseminated mycobacterial infections and salmonella infections due to a decrease in Th1 response. Severe Combined Immunodeficiency is a defect in early stem cell differentiation, resulting in marked deficiency of both B and T cells. It presents with recurrent bacterial, viral, fungal and protozoal infections
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