... Tests of C3 PubMed COMPLEMENT COMPONENT 3; C3 COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE; C3D NCBI Gene ClinVar Martinez-Barricarte R, Heurich M, Valdes-Canedo F, Vazquez-Martul E, Torreira E, Montes T, Tortajada ... into complement activation and regulation. J Clin Invest. 2010 Oct; ...

... 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 ...

... preproprotein complement component C8 beta chain isoform 2 complement component C8 beta chain isoform 3 Tests of C8B PubMed COMPLEMENT COMPONENT 8, BETA ...

... been identified in people with complement factor I deficiency, a disorder characterized by immune system dysfunction. The ... nonfunctional, or absent complement factor I.The lack (deficiency) of functional complement factor I protein allows uncontrolled ...

... have been found to cause complement component 2 deficiency. This disorder reduces the normal function of the ... 90 percent of people with complement component 2 deficiency have a mutation that deletes 28 DNA building ...

... have been found to cause complement component 8 deficiency type I. This condition is an immune system ... such as bacteria. People with complement component 8 deficiency have a significantly increased risk of developing recurrent ...

... 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 ...

... novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med ...