Biomaterial Database

Hereditary complement (C2) deficiency with discoid lupus erythematosus and idiopathic atrophoderma. 1979

M M de Bracco, and C A Bianchi, and O Bianchi, and S G Stringa

A family with hereditary deficiency of the second component of complement was studied. Three siblings were homozygous for C2 deficiency and two of them had associated skin diseases. One sister presented with idiopathic atrophoderma and the other had clinical and pathological manifestations of discoid lupus erythematosus. This is the first description of an association between idiopathic atrophoderma and C2 deficient state.

UI	MeSH Term	Description	Entries
D008179	Lupus Erythematosus, Discoid	A chronic form of cutaneous lupus erythematosus (LUPUS ERYTHEMATOSUS, CUTANEOUS) in which the skin lesions mimic those of the systemic form but in which systemic signs are rare. It is characterized by the presence of discoid skin plaques showing varying degrees of edema, erythema, scaliness, follicular plugging, and skin atrophy. Lesions are surrounded by an elevated erythematous border. The condition typically involves the face and scalp, but widespread dissemination may occur.	Lupus Erythematosus, Chronic Cutaneous,Lupus Erythematosus, Cutaneous, Chronic,Discoid Lupus Erythematosus
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003165	Complement System Proteins	Serum glycoproteins participating in the host defense mechanism of COMPLEMENT ACTIVATION that creates the COMPLEMENT MEMBRANE ATTACK COMPLEX. Included are glycoproteins in the various pathways of complement activation (CLASSICAL COMPLEMENT PATHWAY; ALTERNATIVE COMPLEMENT PATHWAY; and LECTIN COMPLEMENT PATHWAY).	Complement Proteins,Complement,Complement Protein,Hemolytic Complement,Complement, Hemolytic,Protein, Complement,Proteins, Complement,Proteins, Complement System
D003174	Complement C1 Inactivator Proteins	Serum proteins that inhibit, antagonize, or inactivate COMPLEMENT C1 or its subunits.	Complement 1 Esterase Inhibitors,Complement C1 Inactivating Proteins,Complement C1 Inhibiting Proteins,Complement C1 Inhibitor Proteins,Complement C1r Protease Inhibitor Proteins,Complement C1s Esterase Inhibitor Proteins,Complement Component 1 Inactivator Proteins
D003175	Complement C2	A component of the CLASSICAL COMPLEMENT PATHWAY. C2 is cleaved by activated COMPLEMENT C1S into COMPLEMENT C2B and COMPLEMENT C2A. C2a, the COOH-terminal fragment containing a SERINE PROTEASE, combines with COMPLEMENT C4B to form C4b2a (CLASSICAL PATHWAY C3 CONVERTASE) and subsequent C4b2a3b (CLASSICAL PATHWAY C5 CONVERTASE).	C2 Complement,Complement 2,Complement Component 2,C2, Complement,Complement, C2,Component 2, Complement
D003677	Deficiency Diseases	A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)	Deficiency Disease,Disease, Deficiency,Diseases, Deficiency