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Center for Nephrology and Metabolic Disorders
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Achondroplasia-SCID syndrome

The syndrome of achondroplasia and severe combined immunodeficiency appears to be a recessive disorder whose genetic background has to be characterized. It was first described among the Amish people.

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
IRAK4 deficiency
Immunodeficiency 20
Immunodeficiency 21
Immunodeficiency 31A
Immunodeficiency 31B
Immunodeficiency 31C
Immunodeficiency 33
Immunodeficiency 38
Immunodeficiency 41
Immunodeficiency 69
Immunodeficiency-centromeric instability-facial anomalies syndrome
Variable immunodeficiency type 7
Vasculitis due to ADA2 deficiency
Wiskott–Aldrich syndrome
immunodeficiency_51

References:

1.

MacDermot KD et al. (1991) Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.

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2.

Ammann AJ et al. (1974) Antibody-mediated immunodeficiency in short-limbed dwarfism.

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3.

Say B et al. (1972) Thymic dysplasia associated with dyschondroplasia in an infant.

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4.

Alexander WJ et al. (1968) [Unusual bone changes in thymic alymphoplasia].

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5.

Gatti RA et al. (1969) Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia.

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6.

McKusick VA et al. (1966) Ataxia-telangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of the immune mechanism in related Amish sibships.

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7.

Orphanet article

Orphanet ID 935 external link
8.

OMIM.ORG article

Omim 200900 external link
Update: Aug. 14, 2020
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