Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency

Vassallo, Grace; Newton, Rosalind; Chieng, S. E. Alice; Haeney, M R; Shabani, Amir; Arkwright, Peter D.

doi:10.1093/rheumatology/kem207

Cited by 32 publications

(30 citation statements)

References 12 publications

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“…Until now no data were available on life expectancy and quality of life of individuals with C1q deficiency. It has been described that the course of C1q deficiency is variable [21]. By sending questionnaires to the clinicians who are currently treating C1q deficient patients or have treated deceased patients, we now have a first impression on life expectancy, cause of death, quality of life and treatment regimens.…”

Section: Discussionmentioning

confidence: 99%

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Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency

Schaarenburg

Schejbel

Truedsson

et al. 2015

Journal of Autoimmunity

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Section: Discussionmentioning

confidence: 99%

“…In most identified C1q deficient individuals the clinical presentation is towards autoimmunity and the development of SLE, whereas in some individuals the disease mainly presents in the form of recurrent infections e.g. meningitis and in exceptional cases remains largely unnoticed [5,21].…”

Section: Introductionmentioning

confidence: 99%

Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency

Schaarenburg

Schejbel

Truedsson

et al. 2015

Journal of Autoimmunity

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“…An important role in the development of disease attributed to genetic factors [2][3][4][5][6][7] (including antigens HLA class II DR2, DR3 [8], but many other genes outside of this system) [4,[9][10][11][12][13][14], hormones, [15][16][17] (estrogen effects [18][19][20][21] and prolactin inducing autoimmune response), environmental factors [22] (exposure to ultraviolet radiation [23], retroviral infection, EBV, some drugs: procainamide, penicyllamine, isoniazid, methyldopa, chlorpromazyne, interferon alpha, hydralazine) [24].…”

Section: Systemic Lupus Erythematosusmentioning

confidence: 99%

Influence of Secondary Antiphospholipid Syndrome and Secondary Sjögren’s Syndrome on Patient’s Quality of Life with Systemie Lupus Erythematosus

Wisłowska¹

2016

MOJOR

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Systemic lupus erythematosus (SLE) is a chronic autoimmune disease of unknown etiology with involvement of many tissues and organs that develops due to the presence of specific antibodies in the serum. The disease is characterized by a variable course and periods of exacerbations and remissions. SLE negatively affects the quality of life and shortens life expectancy of affected patients. SLE is often accompanied by secondary antiphospholipid (APS) and Sjögren's (SS) syndrome. APS involves arterial and venous thrombosis leading to multiorgan failure. SS, which involves exocrine glands, causes inflammation which manifestes itself by an impaired production of tears and saliva with a significant impact on life quality.Quality of life according the WHO definition involves all aspects of human life. In medical sciences the quality of life depends on the health status. There are many questionnaires available regarding the QOL. Some authors conducted a decrease in QOL in patients with SLE, SS and APL.

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“…Despite the strong association of SLE with the syndrome, a greater degree of clinical variability has become apparent in recent years. Patients completely deficient for serum C1q may be completely asymptomatic into adulthood, and the phenotype can vary widely within families carrying the same mutation (4). Infectious complications also span a spectrum from mild recurrent otitis media to fulminant bacterial meningitis.…”

Section: Monogenic Systemic Autoimmunitymentioning

confidence: 99%

Monogenic Autoimmunity

Cheng¹,

Anderson

2012

Annu. Rev. Immunol.

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Monogenic autoimmune syndromes provide a rare yet powerful glimpse into the fundamental mechanisms of immunologic tolerance. Such syndromes reveal not only the contribution of an individual breakpoint in tolerance but also patterns in the pathogenesis of autoimmunity. Disturbances in innate immunity, a system built for ubiquitous sensing of danger signals, tend to generate systemic autoimmunity. For example, defects in the clearance of self-antigens and chronic stimulation of type 1 interferons lead to the systemic autoimmunity seen in C1q deficiency, SPENCDI, and AGS. In contrast, disturbances of adaptive immunity, which is built for antigen specificity, tend to produce organ-specific autoimmunity. Thus, the loss of lymphocyte homeostasis, whether through defects in apoptosis, suppression, or negative selection, leads to organ-specific autoimmunity in ALPS, IPEX, and APS1. We discuss the unique mechanisms of disease in these prominent syndromes as well as how they contribute to the spectrum of organ-specific or systemic autoimmunity. The continued study of rare variants in autoimmune disease will inform future investigations and treatments directed at rare and common autoimmune diseases alike.

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Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency

Abstract: Awareness of the spectrum of clinical disease, autoantibody profiles and tests required to confirm the diagnosis of C1q deficiency are important if this life-threatening immunodeficiency disease is to be managed correctly.

Cited by 32 publications

References 12 publications

Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency

Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency

Influence of Secondary Antiphospholipid Syndrome and Secondary Sjögren’s Syndrome on Patient’s Quality of Life with Systemie Lupus Erythematosus

Monogenic Autoimmunity

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