Common variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis probands homozygous for HFE C282Y (Q73634266)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12850493%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Common variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis probands homozygous for HFE C282Y (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12850493%20AND%20SRC:MED&resulttype=core&format=json

common variable immunodeficiency

5 November 2019

main subject

1 reference

1 reference

James C Barton

1

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5 November 2019

Luigi F Bertoli

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12850493%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Ronald T Acton

series ordinal

3

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5 November 2019

publication date

1 July 2003

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Blood Cells, Molecules and Diseases

5 November 2019

published in

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5 November 2019

volume

31

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5 November 2019

issue

1

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5 November 2019

page(s)

102-111

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A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

5 November 2019

cites work

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7 January 2021

Mutation analysis in hereditary hemochromatosis

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7 January 2021

Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis

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7 January 2021

Development of a common variable immunodeficiency in IgA-deficient patients

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Fine-scale mapping at IGAD1 and genome-wide genetic linkage analysis implicate HLA-DQ/DR as a major susceptibility locus in selective IgA deficiency and common variable immunodeficiency

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7 January 2021

Common variable immunodeficiency: clinical and immunological features of 248 patients.

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7 January 2021

Susceptibility locus for IgA deficiency and common variable immunodeficiency in the HLA-DR3, -B8, -A1 haplotypes.

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7 January 2021

Fine mapping of IGAD1 in IgA deficiency and common variable immunodeficiency: identification and characterization of haplotypes shared by affected members of 101 multiple-case families

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7 January 2021

Common variable immunodeficiency: how many diseases?

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7 January 2021

Prospective analysis suggests susceptibility genes for deficiencies of IgA and several other immunoglobulins on the [HLA-B8, SC01, DR3] conserved extended haplotype

1 reference

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7 January 2021

MHC susceptibility genes to IgA deficiency are located in different regions on different HLA haplotypes

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7 January 2021

Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis

1 reference

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7 January 2021

Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands

1 reference

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7 January 2021

Management of Hemochromatosis

1 reference

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7 January 2021

HLA-A and -B alleles and haplotypes in hemochromatosis probands with HFE C282Y homozygosity in central Alabama.

1 reference

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7 January 2021

Population genetic analyses of insulin dependent diabetes mellitus using HLA allele frequencies

1 reference

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7 January 2021

Iron overload in African Americans

1 reference

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7 January 2021

Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency.

1 reference

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7 January 2021

Gluconate metabolism of Pasteurellapestis

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7 January 2021

Hemochromatosis detection in a health screening program at an Alabama forest products mill.

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7 January 2021

Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genes

1 reference

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7 January 2021

Shared HLA class II-associated genetic susceptibility and resistance, related to the HLA-DQB1 gene, in IgA deficiency and common variable immunodeficiency

1 reference

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7 January 2021

Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency

1 reference

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7 January 2021

Haemochromatosis, active chronic hepatitis, and familial IgA deficiency

1 reference

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7 January 2021

Mannose Binding Lectin Polymorphisms are Associated With Early Age of Disease Onset and Autoimmunity in Common Variable Immunodeficiency

1 reference

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7 January 2021

Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes

1 reference

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7 January 2021

The major histocompatability complex (MHC) contains conserved polymorphic genomic sequences that are shuffled by recombination to form ethnic-specific haplotypes

1 reference

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7 January 2021

Heterogeneity in rates of recombination in the 6-Mb region telomeric to the human major histocompatibility complex

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7 January 2021

Common variable immunodeficiency: clinical aspects and recent progress in identifying the immunological defect(s).

1 reference

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7 January 2021

Evaluation of the role of Fc gamma and complement receptors in the decreased phagocytosis of hereditary haemochromatosis patients

1 reference

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7 January 2021

A functional defect in hereditary haemochromatosis monocytes and monocyte-derived macrophages

1 reference

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7 January 2021

Relative impact of HLA phenotype and CD4-CD8 ratios on the clinical expression of hemochromatosis.

1 reference

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7 January 2021

The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic

1 reference

https://api.crossref.org/works/10.1016%2FS1079-9796%2803%2900116-5

7 January 2021

Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

1 reference

https://api.crossref.org/works/10.1016%2FS1079-9796%2803%2900116-5

7 January 2021

10.1016/S1079-9796(03)00116-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12850493%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference