Severe Combined Immunodeficiency (SCID) Latest Advances

Total Anomalous Pulmonary Venous Return, Marfan Syndrome, and Severe Combined Immunodeficiency: A Lethal Combination?

Journal: World journal for pediatric & congenital heart surgery

Published: January 28, 2025

Advances and applications of genome-edited animal models for severe combined immunodeficiency.

Journal: Zoological research

Published: January 23, 2025

'Safe harbor' gene therapy approach may have first success.

Journal: Science (New York, N.Y.)

Published: January 17, 2025

Unraveling Omenn syndrome in a newborn: A case report.

Journal: JAAD case reports

Published: January 13, 2025

Purine Nucleoside Phosphorylase Deficiency: A Case Report of an Extremely Rare Disorder.

Journal: Cureus

Published: December 22, 2024

Novel Missense DNA Variants in the IL2RG Gene Identified in Slovak X-linked Severe Combined Immunodeficiency Disease Patients: A Case Report.

Journal: Cureus

Published: December 17, 2024

Measuring the Effect of Newborn Screening on Survival After Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency: A 36-Year Longitudinal Study From the Primary Immune Deficiency Treatment Consortium.

Journal: Pediatrics

Published: December 02, 2024

Thymic and T-cell intrinsic critical roles associated with severe combined immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10.

Journal: The Journal of allergy and clinical immunology

Published: November 25, 2024

Outcome of hematopoietic stem cell transplantation for SCID and impact of newborn screening on overall survival - A single referral center study.

Journal: The Journal of allergy and clinical immunology

Published: November 20, 2024

Parent Reports of Developmental Service Utilization After Newborn Screening.

Journal: International journal of neonatal screening

Published: November 11, 2024

Making sense of adenosine deaminase variants and their clinical implications.

Journal: The Journal of allergy and clinical immunology

Published: October 08, 2024

A Modular Genetic Approach to Newborn Screening from Spinal Muscular Atrophy to Sickle Cell Disease-Results from Six Years of Genetic Newborn Screening.

Journal: Genes

Published: October 07, 2024

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Total Anomalous Pulmonary Venous Return, Marfan Syndrome, and Severe Combined Immunodeficiency: A Lethal Combination?

Total Anomalous Pulmonary Venous Return, Marfan Syndrome, and Severe Combined Immunodeficiency: A Lethal Combination?

Advances and applications of genome-edited animal models for severe combined immunodeficiency.

Advances and applications of genome-edited animal models for severe combined immunodeficiency.

'Safe harbor' gene therapy approach may have first success.

'Safe harbor' gene therapy approach may have first success.

Unraveling Omenn syndrome in a newborn: A case report.

Unraveling Omenn syndrome in a newborn: A case report.

Purine Nucleoside Phosphorylase Deficiency: A Case Report of an Extremely Rare Disorder.

Purine Nucleoside Phosphorylase Deficiency: A Case Report of an Extremely Rare Disorder.

Novel Missense DNA Variants in the IL2RG Gene Identified in Slovak X-linked Severe Combined Immunodeficiency Disease Patients: A Case Report.

Novel Missense DNA Variants in the IL2RG Gene Identified in Slovak X-linked Severe Combined Immunodeficiency Disease Patients: A Case Report.

Measuring the Effect of Newborn Screening on Survival After Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency: A 36-Year Longitudinal Study From the Primary Immune Deficiency Treatment Consortium.

Measuring the Effect of Newborn Screening on Survival After Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency: A 36-Year Longitudinal Study From the Primary Immune Deficiency Treatment Consortium.

Thymic and T-cell intrinsic critical roles associated with severe combined immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10.

Thymic and T-cell intrinsic critical roles associated with severe combined immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10.

Outcome of hematopoietic stem cell transplantation for SCID and impact of newborn screening on overall survival - A single referral center study.

Outcome of hematopoietic stem cell transplantation for SCID and impact of newborn screening on overall survival - A single referral center study.

Parent Reports of Developmental Service Utilization After Newborn Screening.

Parent Reports of Developmental Service Utilization After Newborn Screening.

Making sense of adenosine deaminase variants and their clinical implications.

Making sense of adenosine deaminase variants and their clinical implications.

A Modular Genetic Approach to Newborn Screening from Spinal Muscular Atrophy to Sickle Cell Disease-Results from Six Years of Genetic Newborn Screening.

A Modular Genetic Approach to Newborn Screening from Spinal Muscular Atrophy to Sickle Cell Disease-Results from Six Years of Genetic Newborn Screening.