Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Immunodeficiency 41

Immunodeficiency 41 is an autosomal recessive disorder caused by autosomal recessive mutations of the IL2RA 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
IL2RA
Immunodeficiency 51
Immunodeficiency 68
Immunodeficiency 69
Immunodeficiency 74, COVID19-related
Immunodeficiency-centromeric instability-facial anomalies syndrome
Variable immunodeficiency type 7
Vasculitis due to ADA2 deficiency
Wiskott–Aldrich syndrome

References:

1.

Sharfe N et al. (1997) Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor.

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2.

Caudy AA et al. (2007) CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes.

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3.

Goudy K et al. (2013) Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity.

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4.

Bezrodnik L et al. (2014) Follicular bronchiolitis as phenotype associated with CD25 deficiency.

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5.

None (2000) Human IL-2 receptor alpha chain deficiency.

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Update: Aug. 14, 2020
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