Flow cytometry of peripheral blood lymphocytes can be helpful in the initial triage of a patient with a suspected combined immunodeficiency.
In combined immunodeficiency there is often a combination of abnormalities affecting lymphocytes:
(1) quantitative: decreased or absent
(2) qualitative: present but dysfunctional
Flow cytometry can be used to quantitate lymphocyte subsets.
T cells
B Cells
NK Cells
Diagnosis to Consider
normal
ZAP70-related SCID
decreased
IL7RA-related SCID
JAK3-related SCID, CD45 deficiency, X-linked SCID (IL2RG)
RAG1 deficiency, RAG2 deficiency, ARTEMIS (SCID Athabascan)
ADA deficiency
Additional testing is needed to identify dysfunction. These may be in vivo (response to antigenic stimulus) or in vitro.
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Specialty: Immunology/Rheumatology, Infectious Diseases
ICD-10: ,
