Gene defect behind
APECED: a new clue to autoimmunity.
Sillanpaa et al., "Critical immunological pathways are downregulated in
APECED patient dendritic cells," Journal of Molecular Medicine, vol.
Patients with CMC have a high incidence of endocrinopathies usually associated with
APECED (see above).
Clinically,
APECED comprises of a variety of autoimmune manifestations affecting mainly endocrine organs, such as parathyroid gland, thyroid gland, adrenal cortex and the gonads.
Because of delayed onset of diabetes and without a genetic analysis of AIRE gene, AIRE-related
APECED in this patient remains hypothetic.
Defects in Aire expression result in autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (
APECED) in human and multiorgan autoimmunity and serum autoantibodies in mice [57,62-64].
Podkrajsek et al., "Chronic mucocutaneous candidiasis in
APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines," Journal of Experimental Medicine, vol.
Mathis, "AIRE and
APECED: molecular insights into an autoimmune disease," Immunological Reviews, vol.
http://www.aabainc.org 2,3,4,5 National Association of Anorexia Nervosa and Related Disorders PO Box 7 Highland Park, IL 60035 (847) 831-3438 (847) 433-4632 (fax) ??info@anad.org http://www.anad.org 2,3,4,5,6,7
APECED SYNDROME See: Ectodermal Dysplasia; Hypoparathyroidism APERT SYNDROME See also: Craniofacial Disorders Apert Syndrome Pen Pal Network PO Box 115 Providence, RI 02901 (401) 454-4849 2,3, APHASIA, ACQUIRED See also: Brain Injury/Stroke National Aphasia Association 156 Fifth Ave., Ste.
Westport, CT 06880 (203) 221-7350 (203) 221-9212 (fax) ??pullthrunw@aol.com http://www.pullthrough.org 1,2,3,4,9
APECED SYNDROME See: Ectodermal Dysplasia; Hypoparathyroidism APERT SYNDROME See also: Craniofacial Disorders Apert Support and Information Network PO Box 1184 Fair Oaks, CA 5628 (916) 961-1092 (voice/fax) ??apertnet@ix.netcom.com 1,2,3 Apert Syndrome Pen Pal Network PO Box 115 Providence, RI 02901 (401) 421-9076 3,5,9 Apert Syndrome Support Group 8708 Kathy St St.