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Diagnosis
Section 5. Diagnosis of Combined Immunodeficiencies,
Phagocyte Defects, Innate Immune Defects, and Complement
Deficiencies
Combined Immunodeficiencies Less Severe Than SCID and
Syndromic Immunodeficiencies
Recommendation 5.1
➤ We recommend immunologic investigations in patients with infectious
manifestations, autoimmunity, malignancy, or organ-specific
pathologies, suggesting cellular and humoral immunodeficiencies. (S-H)
Recommendation 5.2
➤ We recommend the diagnosis of CID for patients with impairment
(quantitative or functional) of both cellular and antibody immune
functions. (S-H)
Recommendation 5.3
➤ We recommend immunologic investigations and testing of diagnostic
biological markers in patients with suspicion of CID and certain
specific clinical findings in non-immunologic organs and systems
(syndromic features). (S-H)
Recommendation 5.4
➤ We suggest periodic assessments of immunologic function in patients
with CID and syndromic features. (C-L)
Phagocyte Defects
Recommendation 5.5
➤ We recommend that patients with suspected quantitative neutrophil
defects be screened with serial complete blood cell counts (CBCs)
with differential. (S-H)
Recommendation 5.6
➤ We recommend that patients with suspected leukocyte adhesion
deficiency (LAD) be tested with flow cytometry analysis of relevant
phagocyte surface molecules for LAD I and II, and targeted genetic
testing for LAD I, II, III and IV. (S-H)
