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X-linked Properdin deficiency
Also Known As:
Properdin deficiency, X-linked; Properdin Deficiency, Type I; Properdin P factor deficiency; Properdin deficiency, type 1
Networked:
3
relevant articles (
0
outcomes,
0
trials/studies)
Disease Context: Research Results
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
Inborn Genetic Diseases: 11939
Primary Immunodeficiency Diseases: 1189
Hereditary Complement Deficiency Diseases: 254
X-linked Properdin deficiency: 3
X-Linked Genetic Diseases: 42
X-linked Properdin deficiency: 3
Immune System Diseases: 4321
Immunologic Deficiency Syndromes: 91
Primary Immunodeficiency Diseases: 1189
Hereditary Complement Deficiency Diseases: 254
X-linked Properdin deficiency: 3
Amino Acids, Peptides, and Proteins: 1
Proteins: 484843
Blood Proteins: 12459
Serum Globulins: 553
Beta-Globulins: 159
Properdin: 476
X-linked Properdin deficiency: 3
Immunoproteins: 43
Complement System Proteins: 33379
Properdin: 476
X-linked Properdin deficiency: 3
Globulins: 3062
Serum Globulins: 553
Beta-Globulins: 159
Properdin: 476
X-linked Properdin deficiency: 3
Related Diseases
1.
Protein C Deficiency
2.
Meningitis
Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to X-linked Properdin deficiency:
1.
Properdin
IBA
07/01/1998 - "
Analysis of properdin expression by monocytes in a female carrier in the family with properdin deficiency type I provided direct evidence of lyonization at the cellular level.
"
11/01/1999 - "
The concentration of circulating properdin in affected males was < 0.1 mg/l, indicating properdin deficiency type I. Two of the nine properdin-deficient males in the family had survived meningitis caused by Neisseria meningitidis serogroup B without sequel.
"
11/01/1995 - "
Defective haemolytic activity in gel by the alternative pathway of complement activation could be restored with purified properdin, indicating a properdin deficiency type 1. Protein C antigen level as well as activity were in agreement with a protein C deficiency type I. The polymerase chain reaction (PCR) product of exon five of the protein C gene showed a substitution of 72Gly by Arg.
"
2.
Protein C
IBA
11/01/1995 - "
Defective haemolytic activity in gel by the alternative pathway of complement activation could be restored with purified properdin, indicating a properdin deficiency type 1. Protein C antigen level as well as activity were in agreement with a protein C deficiency type I. The polymerase chain reaction (PCR) product of exon five of the protein C gene showed a substitution of 72Gly by Arg.
"
3.
Antigens
IBA
11/01/1995 - "
Defective haemolytic activity in gel by the alternative pathway of complement activation could be restored with purified properdin, indicating a properdin deficiency type 1. Protein C antigen level as well as activity were in agreement with a protein C deficiency type I. The polymerase chain reaction (PCR) product of exon five of the protein C gene showed a substitution of 72Gly by Arg.
"