In This Issue
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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| In This Issue - Spring 2008 |
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Patient Vignette: A Confusing Case of Class Switching?
Two brothers were seen in our Immunodeficiency Clinic for an evaluation of possible X-linked Hyper-IgM (XHIGM; a.k.a. HIGM1) syndrome. The oldest brother (12 at the time of evaluation) was suspected of having HIGM syndrome based on his clinical phenotype – recurrent sinus and ear infections – and the presence of high IgM levels and reduced to absent IgG, IgA, and IgE. A previously performed CD40L assay (a screening assay for HIGM1) was reportedly abnormal.... [more...] |
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New Assay Development: Phospho-STAT5 (pSTAT5) Assay Protein phosphorylation is an important pathway for regulation of protein function in living cells. It is relevant for the process of signal transduction that regulates gene expression, cellular proliferation and differentiation. Cells respond to the environment in a stepwise mechanism. Upon engagement of a receptor (e.g., growth-, hormone-, cytokine-receptor), molecules are recruited to the receptor to relay the signal to the interior of the cell, resulting in a series of events in response to the outside stimulus.... [more...] |
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An Exercise in Pattern Recognition
The immune system depends on pattern recognition in order to detect danger signals and counteract infections. The diagnostic process of immunodeficiency disorders is largely based on pattern recognition as well. This can be relatively straightforward, such as observing absence of B cells in X-linked Agammaglobulinemia (XLA), but can also be considerably more challenging... [more...] |
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New Diagnostic Tests for Congenital Neutropenia: ELA2 and HAX1
The differential diagnosis of neutropenia is extensive and includes both acquired and inherited diseases. Recent progress in unraveling the underlying genetic defects has resulted in the identification of several genetic mutations that are associated with congenital neutropenia... [more...] |
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Feedback
We would like to hear from our Customers. We invite you to share your questions and comments with us . This can be regarding existing assays, new assays that you might be interested in, the way we report results, other services that we can provide, etc. Feel free to send/fax/email your comments to us (fax: 513-636-3546; email: immunodeficiencies@cchmc.org).
Recruitment
The Immunodeficiency and Histiocytosis Program in the Division of Hematology/Oncology has a variety of research protocols open for recruitment. These protocols share the main feature that they serve to better understand immunologic disease, as it pertains to increased susceptibility to infections, autoimmunity, lymphoproliferation and hemophagocytosis. Our research protocols focus on careful characterization of clinical disease combined with comprehensive immunologic and genetic testing of blood and/or tissues.
