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Published in Vineet Relhan, Vijay Kumar Garg, Sneha Ghunawat, Khushbu Mahajan, Comprehensive Textbook on Vitiligo, 2020
Autoimmune associations with complement deficiency syndromes have been speculated based on various theories and in vitro studies. The heterozygous C4 complement deficiency has been linked to an increased risk of development of vitiligo as compared to the normal population. This could be due to complement-activating antimelanocyte antibodies, which cause a direct destruction of melanocytes by complement components. Other than this, patients with classical complement deficiencies also have an increased risk of developing systemic lupus erythematosus (SLE) [1,6].
Inherited Defects in Immune Defenses Leading to Pulmonary Disease
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
It is difficult to make a general statement with respect to the relationship between complement deficiency and vulnerability to infection for several reasons. Firstly, in the case of many of the complement components there are few or no persons who exhibit a deficiency. Secondly, different disease patterns have emerged with the absence of different discrete complement components highlighting the wide role complement plays in the body's economy. Finally, several complement components are determined by genes close to the human histocompatibility gene complex: the biologic interrelationship between the linked genes appears important [42].
Defences Against Infection
Published in Jeremy R. Jass, Understanding Pathology, 2020
Opsonisation defects may result from deficiency of either antibody or complement. Complement deficiency may be inherited or acquired. Loss of complement components involved in the early part of the activation process (C2) is associated with autoimmune disease (e.g. SLE). Loss of the middle components (C3 or C5) results in an increased risk of pyogenic infection. Loss of later components of the complement cascade (C6, C7 or C8) results in a specific susceptibility to meningitis due to Neisseria meningitidis.
Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome
Published in Modern Rheumatology, 2021
Sulaiman M. Al-Mayouf, Hajar A. Alreefi, Tuqa A. Alsinan, Ghada AlSalmi, Abdulaziz AlRowais, Waleed Al-Herz, Anas M. Alazami, Abdullah Alsonbul, Hamoud Al-Mousa
A total of 39 patients with lupus manifestations and PIDs were identified. There was a marginal female preponderance with 17 males and 22 females (ratio of 1:1.3). The median current age was 13 (IQR 2.0–24.0) years and the mean age at the onset of SLE manifestations was 4.3 ± 2.4 years. Nearly, one-third of them had the initial manifestations prior two years of age. Eight families had more than one affected child. Parenteral consanguinity rate was 57.6% of the enrolled patients. Thirty-four patients had at least four criteria of SLICC for SLE while five patients did not fulfill the criteria. Table 1 shows the summary of SLICC criteria for each patient. Of note, patients who did not fulfill the stringent disease criteria, had significant elevated autoantibodies titers; including antinuclear antibody (ANA), double stranded DNA (ds-DNA), anti-smith and antiphospholipid antibodies. Most patients (84.1%) experienced recurrent infections. Table 2 summarizes the demographic data and the disease activity and damage scores of PIDs patients with lupus manifestations. Thirty-two patients had complement deficiency, and seven patients had different PIDs. Of note, the diagnosis of PIDs confirmed in 22 patients by molecular genetic studies, either through WES or primary immunodeficiency next-generation sequencing (NGS) genes panel.
Catastrophic antiphospholipid syndrome in a patient with systemic sclerosis and hereditary angioedema: case report and literature review
Published in Modern Rheumatology Case Reports, 2018
Jean Liew, Marcia Friedman, Sima Desai, Lindsay Taute, Nastaran Neishaboori, Peter Stenzel, Ajay Wanchu
Our patient also had HAE, a condition of recurrent non-pitting subcutaneous or submucosal oedema affecting the extremities, trunk, face, gastrointestinal tract, and airways. HAE occurs due to deficiency or decreased functionality of the C1 esterase inhibitor. In type 1 HAE, which occurs in 85% of cases, both the C1 esterase inhibitor levels and function are decreased. Increased vascular permeability due to elevated bradykinin levels leads to oedema and vasodilatation [6]. Observational studies have shown that HAE may be related to various autoimmune conditions [26–30]. It is postulated that the complement deficiency leads to autoimmunity via the inadequate clearance of immune complexes. Immune complex-mediated damage may result [31]. A study of 143 HAE patients included two patients with type 1 HAE who had APS and one patient with type 2 HAE and SSc [13]. There were no cases described of SSc occurring with type 1 HAE, nor of CAPS occurring with any type of HAE. Given the importance of the cytokine storm in the pathogenesis of CAPS, it is possible that the complement derangements of an HAE flare may have contributed to our patient’s clinical presentation.
Revisiting the complement system in systemic lupus erythematosus
Published in Expert Review of Clinical Immunology, 2020
Madhubala Sharma, Pandiarajan Vignesh, Karalanglin Tiewsoh, Amit Rawat
A very common method of hemolysis in gel utilizes erythrocytes cast in agarose gel. This test does not provide quantitative measures but it is good to screen for complement deficiency in patients with early-onset lupus. In recent times, a technique based on EIA that enables instantaneous evaluation of all three complement activation cascades has been illustrated as a solid-phase function test. It uses pathway-specific molecules like IgM for CP, mannan for LP, and LPS for AP. An ELISA plate is coated with these molecules, serum is then added and incubated under an environment in which only one pathway is functional by blocking the other two pathways. The last step in EIA is to detect C5b-9 complex by a monoclonal antibody against complex bound C9 neoepitope [103].