Concept explainers
Case summary:
A patient, age 3 weeks reported to the emergency room with rapidly spreading bright scaly rash from leg towards the face. The patient was diagnosed with Omenn Syndrome or autosomal recessive form of SCID. He later died of an opportunistic bacterial infection causing respiratory failure.
Characters in the case:
Xavier Capelleto, the patient under evaluation.
Adequate information:
The patient history brought into light that he was experiencing looser bowel movements, yellow pus around his swollen eyelids, blisters on feet and palms. He showed a very low lymphocyte count (only 8% where normal is close to 50%). All immunoglobulins were markedly low except IgE along with eosinophilia. The thymic shadow was absent in the chest X-ray. Xavier Capelleto was recommended a bone marrow.
To Determine:
The genetic deficiency in his history is consistent with.
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The Immune System, 4th Edition
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