Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Variable immunodeficiency type 7

Type 7 of variable immunodeficiency is caused by recessive mutations of the CR2 gene.

Systematic

Primary immunodeficiency
Achondroplasia-SCID syndrome
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Disposition to infections
IRAK4 deficiency
Immunodeficiency 20
Immunodeficiency 21
Immunodeficiency 31A
Immunodeficiency 31B
Immunodeficiency 31C
Immunodeficiency 33
Immunodeficiency 38
Immunodeficiency 41
Immunodeficiency 51
Immunodeficiency 68
Immunodeficiency 69
Immunodeficiency 74, COVID19-related
Immunodeficiency-centromeric instability-facial anomalies syndrome
Variable immunodeficiency type 7
CR2
Vasculitis due to ADA2 deficiency
Wiskott–Aldrich syndrome

References:

1.

Thiel J et al. (2012) Genetic CD21 deficiency is associated with hypogammaglobulinemia.

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2.

Rosado JL et al. (1984) Enzyme replacement therapy for primary adult lactase deficiency. Effective reduction of lactose malabsorption and milk intolerance by direct addition of beta-galactosidase to milk at mealtime.

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3.

Sahi T et al. (1983) Hypolactasia in a fixed cohort of young Finnish adults. A follow-up study.

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Update: Aug. 14, 2020
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