Variant forms of X-linked severe combined immunodeficiency disease: one or many genes?

Lack of detectable defect in DNA double-strand break repair and DNA-dependent protein kinase activity in radiosensitive human severe combined immunodeficiency fibroblasts.

European journal of immunology·1996

CD2-induced apoptosis in activated human peripheral T cells: a Fas-independent pathway that requires early protein tyrosine phosphorylation.

Journal of immunology (Baltimore, Md. : 1950)·1996

Clinical, hematologic, and biochemical features of a syndrome in Bernese mountain dogs characterized by hepatocerebellar degeneration.

Journal of the American Veterinary Medical Association·1996

gamma-c gene transfer into SCID X1 patients' B-cell lines restores normal high-affinity interleukin-2 receptor expression and function.

Blood·1996

A phase II trial of partially incompatible bone marrow transplantation for high-risk acute lymphoblastic leukaemia in children: prevention of graft rejection with anti-LFA-1 and anti-CD2 antibodies. Société Française de Greffe de Moelle Osseuse.

British journal of haematology·1996

Radiommunological measurement of leptin in plasma of obese and diabetic human subjects.

Endocrinology·1996

Selection transduction defect (STD) due to Zap-70 kinase deficiency.

Immunodeficiency·1995

A PCR based X-chromosome inactivation assay for carrier detection in X-linked immunodeficiencies using differential methylation of the androgen receptor gene.

Immunodeficiency·1995

A syndrome involving immunodeficiency and multiple intestinal atresias.

Immunodeficiency·1995

Lymphoproliferative disorders and other tumors complicating immunodeficiencies.

Immunodeficiency·1994

Molecular basis of adenosine deaminase deficiency.

Immunodeficiency·1994

Lysosomal enzyme activities in Chediak-Higashi syndrome: evaluation of lymphoblastoid cell lines and review of the literature.

Immunodeficiency·1994

The role of ferroptosis in juvenile idiopathic arthritis: Causal inference and mediation by immune phenotypes.

Medicine·2026

Generation and characterization of an isogenic gene-corrected iPSC line CARIMi009-A-1 from a Hutchinson-Gilford Progeria Syndrome (HGPS) patient with a heterozygous G608G mutation in the LMNA gene.

Stem cell research·2026

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio-based Whole-Exome Sequencing.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026

Integrated Genomic and Proteomic Analysis Reveals T-B Lymphocyte Signatures in the MYCN Driven "Immune Desert" of Specific Neuroblastoma Subtypes.

CNS neuroscience & therapeutics·2026

Genetic Modifiers of Cardiac Remodeling Severity in IVS4+919G>A-Associated Fabry Cardiomyopathy.

International journal of molecular sciences·2026

Dissecting Missing Heritability in Rare Inherited Macular Dystrophies.

Genes·2026

Related Experiment Videos

Variant forms of X-linked severe combined immunodeficiency disease: one or many genes?

Related Concept Videos

Lack of detectable defect in DNA double-strand break repair and DNA-dependent protein kinase activity in radiosensitive human severe combined immunodeficiency fibroblasts.

CD2-induced apoptosis in activated human peripheral T cells: a Fas-independent pathway that requires early protein tyrosine phosphorylation.

Clinical, hematologic, and biochemical features of a syndrome in Bernese mountain dogs characterized by hepatocerebellar degeneration.

gamma-c gene transfer into SCID X1 patients' B-cell lines restores normal high-affinity interleukin-2 receptor expression and function.

A phase II trial of partially incompatible bone marrow transplantation for high-risk acute lymphoblastic leukaemia in children: prevention of graft rejection with anti-LFA-1 and anti-CD2 antibodies. Société Française de Greffe de Moelle Osseuse.

Radiommunological measurement of leptin in plasma of obese and diabetic human subjects.

Selection transduction defect (STD) due to Zap-70 kinase deficiency.

A PCR based X-chromosome inactivation assay for carrier detection in X-linked immunodeficiencies using differential methylation of the androgen receptor gene.

A syndrome involving immunodeficiency and multiple intestinal atresias.

Lymphoproliferative disorders and other tumors complicating immunodeficiencies.

Molecular basis of adenosine deaminase deficiency.

Lysosomal enzyme activities in Chediak-Higashi syndrome: evaluation of lymphoblastoid cell lines and review of the literature.

The role of ferroptosis in juvenile idiopathic arthritis: Causal inference and mediation by immune phenotypes.

Generation and characterization of an isogenic gene-corrected iPSC line CARIMi009-A-1 from a Hutchinson-Gilford Progeria Syndrome (HGPS) patient with a heterozygous G608G mutation in the LMNA gene.

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio-based Whole-Exome Sequencing.

Integrated Genomic and Proteomic Analysis Reveals T-B Lymphocyte Signatures in the MYCN Driven "Immune Desert" of Specific Neuroblastoma Subtypes.

Genetic Modifiers of Cardiac Remodeling Severity in IVS4+919G>A-Associated Fabry Cardiomyopathy.

Dissecting Missing Heritability in Rare Inherited Macular Dystrophies.

Related Experiment Videos

Variant forms of X-linked severe combined immunodeficiency disease: one or many genes?

Related Concept Videos

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