Дефіцити комплементу
Disorder | Inheritance | Clinical Findings |
|---|---|---|
C1 | Autosomal recessive | |
C2 | Autosomal recessive | SLE, recurrent pyogenic infections with encapsulated bacteria (especially pneumococcal) that start in early childhood, other autoimmune disorders (eg, glomerulonephritis, idiopathic inflammatory myopathy, vasculitis, IgA-associated vasculitis, Hodgkin lymphoma) |
C3 | Autosomal recessive | Recurrent pyogenic infections with encapsulated bacteria that start at birth, glomerulonephritis, other antigen-antibody complex disorders, sepsis |
C4 | Autosomal recessive | SLE, other autoimmune disorders (eg, IgA nephropathy, progressive systemic sclerosis, IgA-associated vasculitis, type 1 diabetes mellitus, autoimmune hepatitis) |
C5, C6, C7, C8, C9 (membrane attack complex) | Autosomal recessive | Recurrent Neisseria meningitidis and disseminated N. gonorrhoeae infections |
Complement deficiencies in the MBL pathway | ||
MBL | Autosomal recessive | Recurrent pyogenic infections with encapsulated bacteria that start at birth; unexplained sepsis; increased severity of infection in secondary immunodeficiencies due to corticosteroid use, cystic fibrosis, or chronic lung disorders |
MASP-2 | Unknown | Autoimmune disorders (eg, inflammatory bowel disease, erythema multiforme), recurrent pyogenic infections with encapsulated bacteria (eg, Streptococcus pneumoniae) |
Complement deficiencies in the alternative pathway | ||
Factor B | Autosomal recessive | Pyogenic infections |
Factor D | Autosomal | Pyogenic infections |
Properdin | X-linked | Increased risk of fulminant neisserial infection |
Complement regulatory protein deficiencies | ||
C1 inhibitor | Autosomal dominant | |
Factor I | Autosomal codominant | Same as C3 deficiency |
Factor H | Autosomal codominant | Same as C3 deficiency |
Decay accelerating factor | Autosomal recessive | |
Complement receptor (CR) deficiencies | ||
CR1 | Acquired | Secondary finding in immune (antigen-antibody) complex–mediated disease |
CR3 | Autosomal recessive | Leukocyte adhesion deficiency (recurrent Staphylococcus aureus and Pseudomonas aeruginosa infections) |
C = complement; MASP = mannose-binding lectin-associated serine protease; MBL = mannose-binding lectin; SLE = systemic lupus erythematosus. | ||