Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Hereditary susceptibility to infections
Immunodeficiency 20
Immunodeficiency 21
Immunodeficiency 31A
Immunodeficiency 31B
Immunodeficiency 31C
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.

[^]
2.

Orphanet article

Orphanet ID 294415 [^]
3.

Wikipedia article

Wikipedia EN (Renal-hepatic-pancreatic_dysplasia) [^]
Update: April 29, 2019