Mutation analysis should be performed to rule out gammac deficiency in children with functional severe combined immune deficiency despite apparently normal immunologic tests.

doi:10.1016/j.jpeds.2005.05.010

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Article

Mutation analysis should be performed to rule out gammac deficiency in children with functional severe combined immune deficiency despite apparently normal immunologic tests.

The Journal of pediatrics - 1 Oct 2005

Somech Raz, Roifman Chaim M

Abstract excerpt

To study the correlation between genotype and phenotype in x-linked SCID, we have characterized the presentation of 2 unrelated patients. Both had infections suggestive of immunodeficiency, but their immune function and lymphoid tissues were normal. They were found to have an identical R222C mutation in the gammac gene.

Topics

Bone Marrow Transplantation
DNA Mutational Analysis
Genotype
Humans
Infant
Interleukin Receptor Common gamma Subunit
Phenotype
Receptors, Interleukin-7
Severe Combined Immunodeficiency

Source

Open in PubMed

Identifiers

PMID: 16227049
DOI: 10.1016/j.jpeds.2005.05.010

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