Combined Immunodeficiency
Gene: B2M

B2M (beta-2-microglobulin)
EnsemblGeneIds (GRCh38): ENSG00000166710
EnsemblGeneIds (GRCh37): ENSG00000166710
OMIM: 109700, Gene2Phenotype
B2M is in 3 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

Two unrelated families and Two mouse models.

PMID: 16549777 (2006). 2 related individuals, homozygous for missense c.913G-C (transversion) in B2M gene; two mouse models. They both presented with Familial hypocalciuric hypercalcemia (FHH), IgG deficiencies (severe FcRn deficiency) and B2M serum levels less than 1.0%.

PMID: 25702838 (2015). 2 related individuals, homozygous for missense c.67+1G-T (transversion) variant (parents were heterozygotes) in B2M gene. One individual presented with recurrent respiratory tract infections and severe skin disease, and the other was reasonably asymptomatic but had bronchiectasis.
Created: 15 Jul 2021, 5:05 a.m. | Last Modified: 15 Jul 2021, 5:05 a.m.

Panel Version: 0.201

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 43 MIM# 241600; Sinopulmonary infections; Purple-red skin lesions; - Decreased serum IgG; Decreased B cells; Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c

Publications

Created: 15 Jul 2021, 5:05 a.m.
Last Modified: 15 Jul 2021, 5:05 a.m.
Panel version: 0.201

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Immunodeficiency 43 MIM# 241600
Sinopulmonary infections
Purple-red skin lesions
Decreased serum IgG
Decreased B cells
Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c
MONDO:0009434

OMIM

109700

Clinvar variants

Variants in B2M

Penetrance

None

Publications

Panels with this gene