Complement Component 8 Deficiency, Type I; C8d1
Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).Two kinds of inherited C8 deficiency have been reported in man: type I, in which only C8 alpha and C8 gamma are deficient, and type II (OMIM ), in which only C8 beta (C8B ) is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).
Genes related to Complement Component 8 Deficiency, Type I; C8d1
Clinical FeaturesPhenotypes and symptoms related to Complement Component 8 Deficiency, Type I; C8d1
- Systemic lupus erythematosus
- C8 deficiency
- Recurrent Neisserial infections
Incidence and onset information— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.
Complement Component 8 Deficiency, Type I; C8d1 Is also known as c8ag deficiency, c8 deficiency, type i, c8 alpha-gamma deficiency.
Researches and researchersCurrently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
Complement Component 8 Deficiency, Type I; C8d1 Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
Complement deficiencies Panel.
By CeGaT GmbH (Germany).
CFB, THBD, SERPING1, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C8G, C9, CD59 , (...)
View the complete list with 14 more genes
By Fulgent Genetics Fulgent Genetics (United States).
Complement System Disorder Panel.
By Blueprint Genetics (Finland).
CFB, SPAG1, THBD, SERPING1, RSPH1, C1QA, C1QB, C1QBP, C1QC, C1S, C2, VTN, C3, C3AR1, C4BPA, C4BPB, C5, C5AR1, C6, C7 , (...)
View the complete list with 55 more genes
ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL.
By Laboratorio de Genetica Clinica SL (Spain).
CFB, THBD, C1S, C2, C3, C3AR1, C8A, C9, CFHR4, CFHR3, CR1, CR2, MMACHC, CFHR5, DGKE, F12, CFH, CFHR1, CFHR2, CFI , (...)
View the complete list with 4 more genes
You can get up to -4 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM Rare Disease Symptoms Checker
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