T+B+Severe combined immunodeficiencies (SCIDs)

Definition:

Recently, several groups reported a novel clinical and immunological phenotype of T+B+NK+SCID (severe combined immunodeficiencies) associated with recessive RAG1 hypomorphic mutations. The immunological phenotype consists of the oligoclonal expansion of TCR-gamma/delta T cells combined with TCR-alpha/beta T cell lymphopenia. The clinical phenotype consists of severe, disseminated cytomegalovirus (CMV) infection and autoimmune blood cell manifestations.

References:

[1]. Jean-Pierre de Villartay, et al. A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J Clin Invest. 2005 Nov;115(11):3291-9. [Content Brief]

[2]. Srdjan Pasic, et al. Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings. Acta Paediatr. 2009 Jun;98(6):1062-4. [Content Brief]

[3]. Stephan Ehl, et al. A variant of SCID with specific immune responses and predominance of gamma delta T cells. J Clin Invest. 2005 Nov;115(11):3140-8. [Content Brief]

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