Immune Defect due to Absence of Thymus Latest Advances

Refractory immune cytopenia successfully treated with mycophenolate mofetil in four adolescents with del22q11.2 syndrome.

Journal: Frontiers in immunology

Published: February 27, 2026

Clinical hypnosis for velo-cardio-facial syndrome: A case series and therapeutic framework.

Journal: The American journal of clinical hypnosis

Published: February 05, 2026

Predictors for T-cell receptor excision circles in infants without severe combined immunodeficiency or thymic aplasia/hypoplasia.

Journal: Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology

Published: February 03, 2026

Prenatal diagnosis of 22q11.2 microduplication syndrome in a three-generation family: Clinical-genetic characteristics and literature review

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: February 01, 2026

Prenatal ultrasound manifestations and postnatal follow-up of fetuses with 22q11.2 microdeletion syndrome

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: February 01, 2026

Integrated multiomics profiling of amniotic fluid exosomes reveals dysregulated lipid and protein signatures in fetal 22q11.2 deletion syndrome.

Journal: Human genomics

Published: January 24, 2026

Recurrent hypocalcaemic seizures: diagnosing 22q11.2 deletion syndrome in early adulthood.

Journal: BMJ case reports

Published: January 12, 2026

A Systematic Review of Autoimmunity in 22q11.2 Deletion Syndrome.

Journal: Expert reviews in molecular medicine

Published: January 08, 2026

Maternal Folic Acid Supplementation Ameliorates Outflow Tract Malformations in Tbx1 Hypomorphic Mice via Notch and Midkine Signaling.

Journal: Circulation journal : official journal of the Japanese Circulation Society

Published: January 04, 2026

Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant.

Journal: Genes

Published: December 30, 2025

Recurrent hypocalcaemia in an infant with primary hypoparathyroidism due to maternal and infant vitamin D deficiency.

Journal: BMJ case reports

Published: December 18, 2025

Genetic Mapping of the 22q11.2 Deletion Syndrome (DiGeorge Syndrome) Microdeletion Types Revealed Novel Candidate Breakpoints.

Journal: Genes

Published: December 15, 2025

Immune Defect due to Absence of Thymus Latest Advances

Find the Latest Research About Immune Defect due to Absence of Thymus

Refractory immune cytopenia successfully treated with mycophenolate mofetil in four adolescents with del22q11.2 syndrome.

Refractory immune cytopenia successfully treated with mycophenolate mofetil in four adolescents with del22q11.2 syndrome.

Clinical hypnosis for velo-cardio-facial syndrome: A case series and therapeutic framework.

Clinical hypnosis for velo-cardio-facial syndrome: A case series and therapeutic framework.

Predictors for T-cell receptor excision circles in infants without severe combined immunodeficiency or thymic aplasia/hypoplasia.

Predictors for T-cell receptor excision circles in infants without severe combined immunodeficiency or thymic aplasia/hypoplasia.

Prenatal diagnosis of 22q11.2 microduplication syndrome in a three-generation family: Clinical-genetic characteristics and literature review

Prenatal diagnosis of 22q11.2 microduplication syndrome in a three-generation family: Clinical-genetic characteristics and literature review

Prenatal ultrasound manifestations and postnatal follow-up of fetuses with 22q11.2 microdeletion syndrome

Prenatal ultrasound manifestations and postnatal follow-up of fetuses with 22q11.2 microdeletion syndrome

Integrated multiomics profiling of amniotic fluid exosomes reveals dysregulated lipid and protein signatures in fetal 22q11.2 deletion syndrome.

Integrated multiomics profiling of amniotic fluid exosomes reveals dysregulated lipid and protein signatures in fetal 22q11.2 deletion syndrome.

Recurrent hypocalcaemic seizures: diagnosing 22q11.2 deletion syndrome in early adulthood.

Recurrent hypocalcaemic seizures: diagnosing 22q11.2 deletion syndrome in early adulthood.

A Systematic Review of Autoimmunity in 22q11.2 Deletion Syndrome.

A Systematic Review of Autoimmunity in 22q11.2 Deletion Syndrome.

Maternal Folic Acid Supplementation Ameliorates Outflow Tract Malformations in Tbx1 Hypomorphic Mice via Notch and Midkine Signaling.

Maternal Folic Acid Supplementation Ameliorates Outflow Tract Malformations in Tbx1 Hypomorphic Mice via Notch and Midkine Signaling.

Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant.

Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant.

Recurrent hypocalcaemia in an infant with primary hypoparathyroidism due to maternal and infant vitamin D deficiency.

Recurrent hypocalcaemia in an infant with primary hypoparathyroidism due to maternal and infant vitamin D deficiency.

Genetic Mapping of the 22q11.2 Deletion Syndrome (DiGeorge Syndrome) Microdeletion Types Revealed Novel Candidate Breakpoints.

Genetic Mapping of the 22q11.2 Deletion Syndrome (DiGeorge Syndrome) Microdeletion Types Revealed Novel Candidate Breakpoints.