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Complement component 2 deficiency
- Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. ...
- ... the C2 gene have been found to cause complement component 2 deficiency. This disorder reduces the normal function of the ... organs.More than 90 percent of people with complement component 2 deficiency have a mutation that deletes 28 DNA building ...
- Complement component 8 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions ...
- ... this protein impairs formation of complement component 8. Deficiency of this component prevents ... Tests ...
- ... AHUS5 ARMD9 ASP C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1 C3a C3b CO3_HUMAN complement component 3 CPAMD1 Tests of C3 PubMed COMPLEMENT COMPONENT 3; C3 COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE; C3D NCBI Gene ClinVar Martinez-Barricarte ...
- ... beta 2 integrin beta-2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) LFA-1 (αLβ2) Mac-1 (αMβ2) p150/95 (αXβ2) αDβ2 ... Isaeian A, Ashrafi F, Aghamohammadi A. Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ...
- ... symptoms of the condition. C3 inactivator deficiency Complement component 3 ... Nudelman V, Isaac L. Molecular characterization of homozygous hereditary factor I deficiency. Clin Exp Immunol. 2003 Feb;131(2):280-6. doi: 10.1046/j.1365-2249. ...
- ... inactivator C3B/C4B inactivator C3BINA CFAI_HUMAN complement component I complement control protein factor I complement factor I heavy chain ... L. Molecular characterization of homozygous hereditary factor I deficiency. Clin Exp Immunol. 2003 Feb;131(2):280-6. doi: 10.1046/j.1365-2249. ...
- ... known as hereditary angioedema due to C1-INH deficiency. Hereditary angioedema due to C1-INH deficiency is further divided into two types: type I ... that cause hereditary angioedema due to C1-INH deficiency type I occur throughout the gene and lead ...
- ... Testing Registry: C3 Glomerulonephritis Genetic Testing Registry: CFHR5 deficiency Genetic Testing Registry: CFHR5-Related Dense Deposit Disease / ... Glomerulonephritis Type II Genetic Testing Registry: Factor H deficiency Genetic Testing Registry: Mesangiocapillary glomerulonephritis, type II Dense ...