Recombinase‐activating gene 1 immunodeficiency: different immunological phenotypes in three siblings
説明
<jats:title>Abstract</jats:title><jats:p>We report different immunological phenotypes in three siblings from consanguineous family with recombinase‐activating gene 1 (<jats:italic>RAG1</jats:italic>) gene mutations. Null mutations of <jats:italic>RAG</jats:italic> genes result in severe combined immunodeficiency (SCID) with absent T and B cells. Hypomorphic mutations with retained activity of <jats:italic>RAG</jats:italic> genes may lead to a ‘leaky’ SCID with some features of Omenn syndrome (OS) or typical OS. In our three patients, homozygous, hypomorphic <jats:italic>RAG1</jats:italic> gene mutation (g.368–369delAA) was detected. Two patients presented with T−B−SCID phenotype while the youngest patient developed T+B+NK+SCID phenotype with expansion of autologous T‐cell receptor (TCR) γδ‐positive T cells, increased immunoglobulin levels and retained ability for antibody production. Similar to originally reported patients with this newly recognized immune phenotype, our patient developed disseminated cytomegalovirus (CMV) infection and autoimmune cytopenia.</jats:p><jats:p>Conclusion: In infants with disseminated cytomegalovirus infection and autoimmune cytopenia, even if basic immunologic investigation appears normal, <jats:italic>RAG1</jats:italic> immunodeficiency should be considered.</jats:p>
収録刊行物
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- Acta Paediatrica
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Acta Paediatrica 98 (6), 1062-1064, 2009-05-02
Wiley
