LabQ Clinical Exercise 5: Clinical Immunology: The Critical Role of the Immunology Laboratory in the Diagnostic Workup of Atypical Severe Combined Immunodeficiency

ABIGAIL LANG, MD; ELISA OCHFELD, MD; AISHA AHMED, MD; AMER KHOJAH, MD 

Division of Allergy and Immunology

Ann and Robert H. Lurie Children's Hospital of Chicago

Department of Pediatrics Northwestern University

DIVISION OF ALLERGY AND IMMUNOLOGY

KAI LEE YAP, PHD; AARUNI KHANOLKAR, MBBS, PHD

Department of Pathology

Ann and Robert H. Lurie Children's Hospital of Chicago

Department of Pathology Northwestern University 

Primary Audience: Phlebotomists, Laboratory Technologists, Laboratory Directors

Secondary Audience: Pathologists, Clinical Scientists (Includes all sub-specialty areas), Students, Pathologist Assistants, Residents, and Students

Upon completion of this activity, you will be able to:

·         recognize common clinical features of severe combined immunodeficiency (SCID); 

·         discuss the utility of newborn screening (NBS) for SCID;

·         describe the laboratory testing needed to follow up abnormal NBS results for SCID;

·         identify common phenotypic and laboratory findings associated with atypical forms of SCID, including Omenn syndrome and leaky forms of SCID; and

·         discuss common genetic variants associated with different immunophenotypes of SCID.