Genetic approaches to isolating the genes for the X-linked immunodeficiencies

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

The New England journal of medicine·2016

Frequent mutations in SH2D1A (XLP) in males presenting with high-grade mature B-cell neoplasms.

Pediatric blood & cancer·2013

Membranous glomerulopathy in an adult patient with X-linked agammaglobulinemia receiving intravenous gammaglobulin.

Journal of investigational allergology & clinical immunology·2011

A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease.

Clinical and experimental immunology·2008

A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.

Clinical genetics·2007

A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features.

American journal of medical genetics. Part A·2006

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

Measuring canine impulsivity: translation and validation of a German dog impulsivity assessment scale.

Frontiers in veterinary science·2026

Hyperinsulinism-hyperammonemia syndrome due to an autosomal dominant GLUD1 p.Ile497Met mutation.

JCEM case reports·2026

Conservation and plasticity in avian prepro-GnRH-I reflect a modular evolutionary architecture.

General and comparative endocrinology·2026

Single-cell multiomic mapping of genetic predisposition to childhood B-cell acute lymphoblastic leukemia.

bioRxiv : the preprint server for biology·2026

Identifying the causal allele in the CD40 autoimmune locus enables discovery of context-specific trans-effects in B cells.

bioRxiv : the preprint server for biology·2026

Shared genetic architecture between Crohn's disease and IgA nephropathy: implications for a gut-immune-kidney axis.

Frontiers in immunology·2026

Related Experiment Videos

Genetic approaches to isolating the genes for the X-linked immunodeficiencies

Related Concept Videos

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

Frequent mutations in SH2D1A (XLP) in males presenting with high-grade mature B-cell neoplasms.

Membranous glomerulopathy in an adult patient with X-linked agammaglobulinemia receiving intravenous gammaglobulin.

A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease.

A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.

A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features.

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.

Measuring canine impulsivity: translation and validation of a German dog impulsivity assessment scale.

Hyperinsulinism-hyperammonemia syndrome due to an autosomal dominant GLUD1 p.Ile497Met mutation.

Conservation and plasticity in avian prepro-GnRH-I reflect a modular evolutionary architecture.

Single-cell multiomic mapping of genetic predisposition to childhood B-cell acute lymphoblastic leukemia.

Identifying the causal allele in the CD40 autoimmune locus enables discovery of context-specific trans-effects in B cells.

Shared genetic architecture between Crohn's disease and IgA nephropathy: implications for a gut-immune-kidney axis.

Related Experiment Videos

Genetic approaches to isolating the genes for the X-linked immunodeficiencies

Related Concept Videos

Related Articles