LQCL2205 - CMLE - THE CRITICAL ROLE OF THE IMMUNOLOGY LABORATORY IN THE DIAGNOSTIC WORKUP OF ATYPICAL SEVERE COMBINED IMMUNODEFICIENCY-THE CRITICAL ROLE OF THE IMMUNOLOGY LABORATORY IN THE DIAGNOSTIC WORKUP OF ATYPICAL SEVERE COMBINED IMMUNODEFICIENCY

THE CRITICAL ROLE OF THE IMMUNOLOGY LABORATORY IN THE DIAGNOSTIC WORKUP OF ATYPICAL SEVERE COMBINED IMMUNODEFICIENCY

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The document explores severe combined immunodeficiency (SCID) cases, focusing on clinical features, diagnostic methods, and genetic factors. The text discusses the significance of newborn screening (NBS) for SCID to enable early detection and treatment. It covers laboratory testing such as T-cell subset quantitation, TREC counts, memory T-cell subset analyses, and mitogen-induced lymphocyte proliferation assays. The document emphasizes the importance of genetic testing to identify specific genetic mutations associated with SCID. Furthermore, it delves into the classification of atypical forms of SCID like Omenn syndrome and leaky SCID, detailing their characteristic features and diagnostic criteria. Detailed case studies and references are included to illustrate diagnostic processes and outcomes. The goal is to enhance the understanding of SCID, improve diagnostic accuracy, guide appropriate treatment strategies, and highlight the critical role of immunology laboratories in managing these complex disorders.

Keywords

severe combined immunodeficiency

SCID

clinical features

diagnostic methods

genetic factors

newborn screening

NBS

T-cell subset quantitation

genetic testing

Omenn syndrome