Abstract
In suspicion to combined immunodeficiency, immunologic evaluation includes CBC, serum immunoglobulin level, antibody response to vaccines, peripheral blood flow cytometry and T cell function response to phytohemagglutinin (PHA) and antigens
In severe combined immunodeficiency (SCID), lymphocytes proliferation in response to PHA is usually less than 10% of lower limit of normal control.
In patients with leaky SCID, lymphocyte proliferation in response to PHA is less than 30%
Sanger sequencing test is used when the case has a highly probable diagnosis based on phenotype.
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References
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Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR, Griffith LM, Kohn DB, O’reilly RJ, Fleisher TA. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. J Allergy Clin Immunol. 2014;133(4):1092–8.
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Eslami, N., Mesdaghi, M., Chavoshzadeh, Z. (2019). Recurrent Pneumonia. In: Rezaei, N. (eds) Pediatric Immunology. Springer, Cham. https://doi.org/10.1007/978-3-030-21262-9_25
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DOI: https://doi.org/10.1007/978-3-030-21262-9_25
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