From the Diagnostic Immunology Laboratories is published by the Immunodeficiencies and Histiocytosis Program, part of the Division of Hematology / Oncology, at Cincinnati Children's Hospital Medical Center.
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Patient Vignette (part 1)
A Case of Mistaken Immunologic Identity?
In the evaluation of suspected primary immunodeficiency disorders, screening assays are particularly helpful to guide the diagnostic workup. This includes developing strategies for targeted (and cost-effective) genetic testing. [more...] | |  |
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A Flaer for PNH
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder. The basic defect in PNH is an expansion of hematopoietic stem cells carrying a mutation in the phosphatidylinositol glycan class A (PIG-A) gene. [more...] | |  |
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Eosinophil-based Assays
In contrast to other parts of the gastrointestinal tract, the normal esophagus does not contain eosinophils, and thus demonstrating eosinophils in this particular anatomical structure is abnormal. Among the disorders to consider, eosinophilic esophagitis (EE) is characterized by particularly high eosinophil counts. [more...] | |  |
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Immuno-101
Immunophenotyping of cells of the immune system is a staple in the workup of patients with immunologic disorders. According to the principle of "Form Follows Function", immunophenotyping is reflective of functional characteristics of the immune system (or lack thereof). [more...] | |  |
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Patient Vignette (part 2)
The assays show similar patterns: low CD40L expression at baseline and essentially no upregulation after stimulation (with normal ICOS and CD69 expression), while the healthy control exhibits the typical pattern of CD40L up-regulation on activated T-cells. [more...] | |  |
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