Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID
Makaleler > Tam Makale · 2009
Yazarlar: Neslihan KARACA, Güzide AKSU, Ferah GENEL, Nesrin Gulez, Sema Can, Yesim Aydinok, Serap AKSOYLAR, Emin KARACA, Imren Altuglu, Necil KÜTÜKÇÜLER
CLINICAL AND EXPERIMENTAL MEDICINE, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2009, cilt 9, ss 339-342
DOI: 10.1007/s10238-009-0053-1
Özet
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 TCR gamma delta 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 TCR gamma delta 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.