Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Immunodeficiency 51

Immunodeficiency 51 is an autosomal recessive disorder caused by autosomal recessive mutations of the IL17RA 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
IL17RA
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.

Tan W et al. (2006) IL-17 receptor knockout mice have enhanced myelotoxicity and impaired hemopoietic recovery following gamma irradiation.

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2.

Kudva A et al. (2011) Influenza A inhibits Th17-mediated host defense against bacterial pneumonia in mice.

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3.

Puel A et al. (2011) Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.

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4.

Lévy R et al. (2016) Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.

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Update: Aug. 14, 2020
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