(Q37221330)

19 August 2017

1 reference

title

Genetics of human X-linked immunodeficiency diseases (English)

1 reference

19 August 2017

1 reference

https://api.crossref.org/works/10.1111/J.1365-2249.1991.TB05702.X

12 December 2022

author name string

R. W. Hendriks

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1863997

12 December 2022

R. K. Schuurman

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1863997

12 December 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1863997

12 December 2022

publication date

1 August 1991

1 reference

full work available at URL

19 August 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2249.1991.tb05702.x

1 reference

https://api.crossref.org/works/10.1111/J.1365-2249.1991.TB05702.X

https://academic.oup.com/cei/article-pdf/85/2/182/42214294/j.1365-2249.1991.tb05702.x.pdf

12 December 2022

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1111/J.1365-2249.1991.TB05702.X

Clinical and Experimental Immunology

12 December 2022

published in

1 reference

19 August 2017

85

1 reference

19 August 2017

182-192

1 reference

19 August 2017

2

1 reference

Sex-linked hereditary thrombocytopenia as a variant of Wiskott-Aldrich syndrome

19 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2249.1991.TB05702.X

Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2249.1991.TB05702.X

Abnormal Lymphocyte Capping in a Patient with Severe Combined Immunodeficiency Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2249.1991.TB05702.X

Epstein-Barr virus infections in males with the X-linked lymphoproliferative syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2249.1991.TB05702.X

Active X chromosome DNA is unmethylated at eight CCGG sites clustered in a guanine-plus-cytosine-rich island at the 5' end of the gene for phosphoglycerate kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2249.1991.TB05702.X

The gamma globulins. 3. The antibody deficiency syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2249.1991.TB05702.X

The Primary Immunodeficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2249.1991.TB05702.X

Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2249.1991.TB05702.X

Severe combined immunodeficiency due to a specific defect in the production of interleukin-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2249.1991.TB05702.X

X-linked immunodeficiency with hyperimmunoglobulinemia M appears to be linked to the DXS42 restriction fragment length polymorphism locus

21 January 2018

1 reference

12 December 2020

Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism

1 reference

12 December 2020

Inherited enzyme deficiencies and immunodeficiency: adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) deficiencies

1 reference

12 December 2020

Immunoglobulin heavy chain gene rearrangements in X-linked agammaglobulinemia

1 reference

12 December 2020

Evidence for a defect in "switch" T cells in patients with immunodeficiency and hyperimmunoglobulinemia M

1 reference

12 December 2020

Close linkage of hypervariable marker DXS255 to disease locus of Wiskott-Aldrich syndrome

1 reference

12 December 2020

Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia

1 reference

12 December 2020

Localization of the properdin structural locus to Xp11.23-Xp21.1.

1 reference

12 December 2020

Isolation and characterization of a human variable copy number tandem repeat at Xcen-p11.22.

1 reference

12 December 2020

Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37

1 reference

12 December 2020

X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis

1 reference

12 December 2020

X-chromosome inactivation in the Wiskott-Aldrich syndrome: a marker for detection of the carrier state and identification of cell lineages expressing the gene defect

1 reference

12 December 2020

Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms.

1 reference

12 December 2020

Linkage of PGK1 to X-linked severe combined immunodeficiency (IMD4) allows predictive testing in families with no surviving male

1 reference

12 December 2020

An immunodeficiency characterized by defective signal transduction in T lymphocytes

1 reference

12 December 2020

Clonal diversity in the B cell repertoire of patients with X-linked agammaglobulinemia

1 reference

12 December 2020

Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome

1 reference

12 December 2020

Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA)

1 reference

12 December 2020

Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP)

1 reference

12 December 2020

Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome

1 reference

12 December 2020

X chromosome inactivation patterns in obligate carriers of X-linked lymphoproliferative syndrome

1 reference

12 December 2020

Phenotypic features and proliferative activity of B cell progenitors in X-linked agammaglobulinemia

1 reference

12 December 2020

X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings

1 reference

12 December 2020

Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus

1 reference

12 December 2020

Diagnosis and classification of severe combined immunodeficiency disease

1 reference

12 December 2020

Early pre-B cells from normal and X-linked agammaglobulinaemia produce Cμ without an attached VH region

1 reference

12 December 2020

Surface protein abnormalities in lymphocytes and platelets from patients with Wiskott-Aldrich syndrome

1 reference

12 December 2020

Allelic exclusion of glucose-6-phosphate dehydrogenase in platelets and T lymphocytes from a Wiskott-Aldrich syndrome carrier

1 reference

12 December 2020

The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets

1 reference

12 December 2020

Heterogeneity of b lymphocyte differentiation in severe combined immunodeficiency disease

1 reference

12 December 2020

Hyper IgM immunodeficiency. A primary dysfunction of B lymphocyte isotype switching

1 reference

12 December 2020

Methylation of the hypoxanthine phosphoribosyltransferase locus on the human X chromosome: implications for X-chromosome inactivation

1 reference

12 December 2020

Differentiation of precursor T lymphocytes in man and delineation of the selective abnormalities in severe combined immune deficiency disease

1 reference

12 December 2020

IgM-restricted production of immunoglobulin by lymphoid cell lines from patients with immunodeficiency with hyper IgM (dysgammaglobulinemia).

1 reference

12 December 2020

Polyclonal activation of human lymphocytes in vitro-II. Reappraisal of T and B cell-specific mitogens.

1 reference

12 December 2020

X-linked hypogammaglobulinemia and isolated growth hormone deficiency

1 reference

12 December 2020

Wiskott-Aldrich syndrome: cellular impairments and their implication for carrier detection

1 reference

12 December 2020

Genes for growth hormone, chorionic somatommammotropin, and growth hormones-like gene on chromosome 17 in humans

1 reference

12 December 2020

The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979).

1 reference

12 December 2020

Failure of lymphocyte-membrane HLA-A and -B expression in two siblings with combined immunodeficiency

1 reference

12 December 2020

Hypoimmunoglobulinaemia with deficiency of pre-B cells

1 reference

12 December 2020

B lymphocyte precursors in human bone marrow: an analysis of normal individuals and patients with antibody-deficiency states

1 reference

12 December 2020

Hyper immunoglobulin M immunodeficiency. (Dysgammaglobulinemia). Presence of immunoglobulin M-secreting plasmacytoid cells in peripheral blood and failure of immunoglobulin M-immunoglobulin G switch in B-cell differentiation

1 reference

12 December 2020

Hypoimmunoglobulinemia with normal T cell function in female siblings

1 reference

12 December 2020

Wiskott-Aldrich syndrome. An immunologic deficiency disease involving the afferent limb of immunity

1 reference

12 December 2020

Inherited thrombocytopenia

1 reference

12 December 2020

Primordial cell pool size and lineage relationships of five human cell types.

1 reference

12 December 2020

Heterogeneity of lymphocyte subpopulations in severe combined immunodeficiency. Evidence against a stem cell defect

1 reference

12 December 2020

Carrier detection in typical and atypical X-linked agammaglobulinemia

1 reference

12 December 2020

Early diagnosis in X-linked agammaglobulinaemia

1 reference

12 December 2020

Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency

1 reference

12 December 2020

Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency

1 reference

12 December 2020

Clonal analysis using recombinant DNA probes from the X-chromosome

1 reference

12 December 2020

The William Allan memorial award address: X-chromosome inactivation and the location and expression of X-linked genes

1 reference

12 December 2020

Carrier detection in the Wiskott Aldrich syndrome

1 reference

12 December 2020

Genetic prediction in X-linked agammaglobulinaemia

1 reference

12 December 2020

Complete concordance between glucose-6-phosphate dehydrogenase activity and hypomethylation of 3' CpG clusters: implications for X chromosome dosage compensation

1 reference

12 December 2020

Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity

1 reference

12 December 2020

Expression of the gene defect in X-linked agammaglobulinemia

1 reference

12 December 2020

Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13.

1 reference

12 December 2020

Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome

1 reference

12 December 2020

The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245

1 reference

12 December 2020

The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex

1 reference

12 December 2020

Morphological abnormalities in the lymphocytes of patients with the Wiskott-Aldrich syndrome

1 reference

12 December 2020

B cells in patients with X-linked agammaglobulinemia

1 reference

12 December 2020

Pre-B cells in agammaglobulinemia: evidence for disease heterogeneity among affected boys

1 reference

12 December 2020

Methylation patterns at the hypervariable X-chromosome locus DXS255 (M27β): Correlation with X-inactivation status

1 reference

12 December 2020

Recurrent bacterial infections and dysgamma-globulinemia: deficiency of 7S gamma-globulins in the presence of elevated 19S gamma-globulins. Report of two cases

1 reference

12 December 2020

Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.

1 reference

12 December 2020

1 reference

12 December 2020

Diagnosis of Wiskott-Aldrich syndrome by analysis of the X chromosome inactivation patterns in maternal leucocyte populations using the hypervariable DXS255 locus

1 reference

12 December 2020

FK506: the promise and the paradox

1 reference

12 December 2020

Evidence that in X-linked immunodeficiency with hyperimmunoglobulinemia M the intrinsic immunoglobulin heavy chain class switch mechanism is intact

1 reference

12 December 2020

Severe combined immunodeficiency in man with an absence of immunoglobulin gene rearrangements but normal T cell receptor assembly

1 reference

12 December 2020

Primary combined immunodeficiency resulting from defective transcription of multiple T-cell lymphokine genes.

1 reference

12 December 2020

The scid mutation in mice causes a general defect in DNA repair

1 reference

12 December 2020

Human severe combined immunodeficiency disease: phenotypic and functional characteristics of peripheral B lymphocytes

1 reference

12 December 2020

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1 reference

12 December 2020

Altered expression of leucocyte sialoglycoprotein in Wiskott-Aldrich syndrome is associated with a specific defect in O-glycosylation

1 reference

12 December 2020

Properdin, the terminal complement components, thrombospondin and the circumsporozoite protein of malaria parasites contain similar sequence motifs.

1 reference

12 December 2020

Development of immunity in human severe primary T cell deficiency following haploidentical bone marrow stem cell transplantation.

1 reference

12 December 2020

Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci

1 reference

12 December 2020

Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation

1 reference

12 December 2020

Evidence that X-linked severe combined immunodeficiency is not a differentiation defect of T lymphocytes

38

1 reference

https://api.crossref.org/works/10.1111/J.1365-2249.1991.TB05702.X

Linkage relationships of the Wiskott-Aldrich syndrome to 10 loci in the pericentromeric region of the human X chromosome

12 December 2022

45

1 reference

https://api.crossref.org/works/10.1111/J.1365-2249.1991.TB05702.X

Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia

12 December 2022

47

1 reference

https://api.crossref.org/works/10.1111/J.1365-2249.1991.TB05702.X

The rate of spontaneous mutation of a human gene

12 December 2022

48

1 reference

https://api.crossref.org/works/10.1111/J.1365-2249.1991.TB05702.X

Report of the committee on linkage and gene order

12 December 2022

56

1 reference

https://api.crossref.org/works/10.1111/J.1365-2249.1991.TB05702.X

X-linked agammaglobulinemia

12 December 2022

97

1 reference

https://api.crossref.org/works/10.1111/J.1365-2249.1991.TB05702.X

12 December 2022

Identifiers

1 reference

National Center for Biotechnology Information

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1863997

12 December 2022

1 reference