C1Q deficiency
MONDO:0013343C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.
Also known as: C1Q deficiency, C1QD, C1q deficiency
54 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Broader categories
-
New hope for kids: drug may prevent transplant complications
Disease control Not yet recruitingThis study tests whether adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…
Phase: PHASE2 • Sponsor: Sung Won Choi • Aim: Disease control
Last updated Jul 02, 2026 00:00 UTC
-
Could a stool sample replace a spinal tap? new study tests Non-Invasive infection detection
Diagnosis Not yet recruitingThis study will test whether analyzing stool and urine samples using a technique called metagenomics can find infections in people with weakened immune systems (due to HIV, chemotherapy, or immunosuppressive drugs). Currently, doctors often need to take invasive samples like bloo…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Diagnosis
Last updated Jun 27, 2026 12:36 UTC
-
Which infusion pump do patients prefer? new study aims to find out
Symptom relief Not yet recruitingThis study looks at how patients with primary or secondary immunodeficiency feel about using mechanical versus electronic infusion pumps for their immunoglobulin therapy. About 52 adults who have used electronic pumps will try a mechanical pump for three months and then report th…
Phase: NA • Sponsor: KORU Medical Systems, Inc. • Aim: Symptom relief
Last updated Jun 27, 2026 07:51 UTC
-
New study aims to unravel mysteries of immune disorder complications
Knowledge-focused Not yet recruitingThis study looks back at medical records of about 60 people with primary immune deficiencies who also developed lymphoproliferative disorders (abnormal growth of immune cells). The goal is to track their health over time, including risks of death, cancer, or organ damage. By iden…
Sponsor: Central Hospital, Nancy, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:06 UTC
-
New study to measure how immune disorders impact Kids' happiness
Knowledge-focused Not yet recruitingThis study looks at how children aged 6 to 18 with inborn errors of immunity (a condition where the immune system doesn't work properly) feel about their quality of life. Researchers will compare their answers to those of healthy children using a special questionnaire. The goal i…
Sponsor: Sohag University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC
-
Scientists hunt for rogue immune cells in autoimmune diseases
Knowledge-focused Not yet recruitingThis study aims to better understand why some people's immune cells attack their own body, causing autoimmune diseases like lupus and scleroderma. Researchers will analyze blood samples from 200 adults with these conditions to identify and measure specific harmful immune cells. T…
Sponsor: University Hospital, Strasbourg, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC