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Results 1 - 7 of 7 for Complement component 2 deficiency
  1. C2 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/c2 - Genetics
  2. ITGB2 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/itgb2 - Genetics
  3. C8B gene 
    ... this protein impairs formation of complement component 8. Deficiency of this component prevents ... Tests ...
    https://medlineplus.gov/genetics/gene/c8b - Genetics
  4. C3 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/c3 - Genetics
  5. CFI gene 
    ... 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. ...
    https://medlineplus.gov/genetics/gene/cfi - Genetics
  6. SERPING1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/serping1 - Genetics
  7. PIGT gene 
    ... Brodsky RA. Paroxysmal nocturnal hemoglobinuria without GPI-anchor deficiency. J Clin Invest. 2019 Dec 2;129(12): ... novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med ...
    https://medlineplus.gov/genetics/gene/pigt - Genetics