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.
|Autoinflammation, antibody deficiency, and immune dysregulation syndrome|
|Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome|
|Hereditary susceptibility to infections|
|Immunodeficiency-centromeric instability-facial anomalies syndrome|
|Variable immunodeficiency type 7|
|Vasculitis due to ADA2 deficiency|
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.
Ammann AJ et al. (1974) Antibody-mediated immunodeficiency in short-limbed dwarfism.
Say B et al. (1972) Thymic dysplasia associated with dyschondroplasia in an infant.
Alexander WJ et al. (1968) [Unusual bone changes in thymic alymphoplasia].
Gatti RA et al. (1969) Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia.
McKusick VA et al. (1966) Ataxia-telangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of the immune mechanism in related Amish sibships.
Orphanet articleOrphanet ID 935
OMIM.ORG articleOmim 200900