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Ann Saudi Med ; 30(3): 239-42, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20427943


Severe combined immunodeficiency (SCID) is a primary immunodeficiency disorder with heterogenous genetic etiologies. We describe a typical case in a 9-year-old boy that was masked by a clinically functional maternal T cell engraftment leading to late presentation with Pneumocystis jiroveci pneumonia and cytomegalovirus infection, probably following exhaustion of maternally engrafted cells. Based on immunological findings, he had a T- B+SCID phenotype.This report suggests that in rare cases, engrafted maternal T cell might persist for long time leading to partial constitution of immune function and delayed clinical presentation of SCID.

Ativação Linfocitária , Efeitos Tardios da Exposição Pré-Natal , Linfócitos T/imunologia , Doenças por Imunodeficiência Combinada Ligada ao Cromossomo X/diagnóstico , Criança , Infecções por Citomegalovirus , Feminino , Humanos , Fenótipo , Pneumocystis carinii/imunologia , Pneumocystis carinii/isolamento & purificação , Pneumonia por Pneumocystis/diagnóstico , Pneumonia por Pneumocystis/etiologia , Pneumonia por Pneumocystis/microbiologia , Gravidez , Imunodeficiência Combinada Severa/diagnóstico , Imunodeficiência Combinada Severa/etiologia , Imunodeficiência Combinada Severa/genética , Fatores de Tempo , Doenças por Imunodeficiência Combinada Ligada ao Cromossomo X/etiologia , Doenças por Imunodeficiência Combinada Ligada ao Cromossomo X/genética
Retrovirology ; 5: 79, 2008 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-18786256


A novel intrinsic HIV-1 antisense gene was previously described with RNA initiating from the region of an HIV-1 antisense initiator promoter element (HIVaINR). The antisense RNA is exactly complementary to HIV-1 sense RNA and capable of forming approximately 400 base-pair (bp) duplex RNA in the region of the long terminal repeat (LTR) spanning the beginning portion of TAR in the repeat (R) region and extending through the U3 region. Duplex or double-stranded RNA of several hundred nucleotides in length is a key initiating element of RNA interference (RNAi) in several species. This HIVaINR antisense RNA is also capable of forming multiple stem-loop or hairpin-like secondary structures by M-fold analysis, with at least one that perfectly fits the criteria for a microRNA (miRNA) precursor. MicroRNAs (miRNAs) interact in a sequence-specific manner with target messenger RNAs (mRNAs) to induce either cleavage of the message or impede translation. Human mRNA targets of the predicted HIVaINR antisense RNA (HAA) microRNAs include mRNA for the human interleukin-2 receptor gamma chain (IL-2RG), also called the common gamma (gammac) receptor chain, because it is an integral part of 6 receptors mediating interleukin signalling (IL-2R, IL-4R, IL-7R, IL-9R, IL-15R and IL-21R). Other potential human mRNA targets include interleukin-15 (IL-15) mRNA, the fragile x mental retardation protein (FMRP) mRNA, and the IL-1 receptor-associated kinase 1 (IRAK1) mRNA, amongst others. Thus the proposed intrinsic HIVaINR antisense RNA microRNAs (HAAmiRNAs) of the human immunodeficiency virus form complementary targets with mRNAs of a key human gene in adaptive immunity, the IL-2Rgammac, in which genetic defects are known to cause an X-linked severe combined immunodeficiency syndrome (X-SCID), as well as mRNAs of genes important in innate immunity. A new model of intrinsic RNA silencing induced by the HIVaINR antisense RNA in the absence of Tat is proposed, with elements suggestive of both small interfering RNA (siRNA) and miRNA.

HIV/genética , Interferência de RNA , Doenças por Imunodeficiência Combinada Ligada ao Cromossomo X/virologia , Proliferação de Células , Proteína do X Frágil de Retardo Mental/genética , HIV/química , Interações Hospedeiro-Patógeno , Humanos , Subunidade gama Comum de Receptores de Interleucina/genética , Quinases Associadas a Receptores de Interleucina-1/genética , Interleucina-15/genética , MicroRNAs/química , MicroRNAs/genética , Modelos Genéticos , RNA Antissenso/química , RNA Antissenso/genética , RNA Viral/química , RNA Viral/genética , Linfócitos T/fisiologia , Linfócitos T/virologia , Doenças por Imunodeficiência Combinada Ligada ao Cromossomo X/etiologia