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IllnessC1Q deficiency
Summary
Short information
A curated panel containing 3 genes for the comprehensive analysis of the genetically caused forms of C1Q deficiency
ID
CP0010
Number of genes
3
Accredited laboratory test
Examined sequence length
2,3 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
Group of diseases: Immunodeficiency due to classical component pathway complement deficiency is primary lacking either components C1q, C1r, C1s, C2, C4; increased susceptibility to bacterial infections, particularly encapsulated bacteria, increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis, arthralgia; severity variable, dependent on the complement affected
Synonyms
- Alias: C1Q deficiency
- Alias: Immunodeficiency due to C1, C4 or C2 component complement deficiency
- Alias: Immunodeficiency due to an early component of complement deficiency
- C1Q deficiency susceptibility to invasive bacterial infection (C1QB)
- C1Q deficiency; Complement component 1 deficiency (C1QA)
- Complement component 1 deficiency (C1QB)
- Immunodeficiency due to classical component pathway complement deficiency (C1QA)
- Immunodeficiency due to classical component pathway complement deficiency (C1QC)
- Immunodeficiency due to early component of complement deficiency (C1QB)
- SLE, infections with encapsulated organisms (C1QA)
- SLE, infections with encapsulated organisms SLE lupus-like disease (C1QB)
- SLE, infections with encapsulated organisms, Complement component 1 def., C1Q deficiency
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
D84.1
Bioinformatics and clinical interpretation
No text defined