Immunodeficiency due to a classical component pathway complement deficiency
Synonyms: Immunodeficiency due to C1, C4, or C2 component complement deficiency | Immunodeficiency due to an early component of complement deficiency
Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q C1r C1s C2 or C4 characterized by increased susceptibility to bacterial infections particularly with encapsulated bacteria and increased risk for autoimmune disease. Most commonly these include systemic lupus erythematosus (SLE) SLE-like disease Henoch-Schonlein purpura polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Immunodeficiency due to a classical component pathway complement deficiency?
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Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
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Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.