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Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.

Abstract：

:Severe combined immunodeficiencies (SCID) comprise a spectrum of genetic defects that involve both humoral and cellular immunities. Defects in recombinating activating gene 1 (RAG1), RAG2, Artemis, or LIG4 can disrupt V(D)J recombination. Defective V(D)J recombination of the T and B cell receptors is responsible for T(-)B(-)NK(+)SCID. Amorphic mutations in RAG1 and RAG2 cause T(-)B(-)NK(+)SCID, whereas hypomorphic mutations cause an immunodeficency characterized by oligoclonal expansion of TCRgammadelta T cells, severe CMV infection and autoimmunity. First patient is a typical T(-)B(-)NK(+)SCID with clinical and immunologic findings while the second is atypical with normal immunoglobulin levels, CD4 lymphopenia, elevated TCRgammadelta T cells, persistent CMV infection, and autoimmune hemolytic anemia. These cases are presented to emphasize that mutations in RAG1 gene may lead to a diverse spectrum of clinical and immunologic findings while hypomorphic mutations may be related with autoimmunity and refractory CMV infection during infancy.

journal_name

Clin Exp Med

journal_title

Clinical and experimental medicine

authors

Karaca NE,Aksu G,Genel F,Gulez N,Can S,Aydinok Y,Aksoylar S,Karaca E,Altuglu I,Kutukculer N

doi

10.1007/s10238-009-0053-1

subject

Has Abstract

pub_date

2009-12-01 00:00:00

pages

339-42

issue

4

eissn

1591-8890

issn

1591-9528

journal_volume

9

pub_type

杂志文章

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