Abstract
The paper presents data on the pathogenesis of systemic lupus erythematosus (SLE), and depicts various molecular mechanisms for the development of SLE and lupus-like syndromes. It describes groups of diseases, such as apoptotic defects; NETosis; interferonopathies; complement deficiency; autotolerance disorders associated with mutations in the RAG1/RAG2 genes; hereditary metabolic diseases (prolidase deficiency, deficiency of adenosine deaminase 2; lysinuric protein intolerance; and α-mannosidase deficiency). The table summarizes clinical data on most of the known lupus-like syndromes and their molecular mechanisms.The pathogenesis of many forms of monogenic lupus-like diseases is being studied. The main sign suggesting in favor of the possible monogenic disease in a patient with SLE is its onset in infancy, especially in males. Attention should be also paid to a compromised family history, including to the marriage between close relatives, the resistance of disease to standard therapy, as well as atypical symptoms.
Highlights
The paper presents data on the pathogenesis of systemic lupus erythematosus (SLE), and depicts various molecular mechanisms for the development of SLE and lupus-like syndromes. It describes groups of diseases, such as apoptotic defects; NETosis; interferonopathies; complement deficiency; autotolerance disorders associated with mutations in the RAG1/RAG2 genes; hereditary metabolic diseases
The main sign suggesting in favor of the possible monogenic disease in a patient with SLE is its onset in infancy, especially in males
Кучинская Е.М. https://orcid.org/0000-0002-1383-3373 Суспицын Е.Н. https://orcid.org/0000-0001-9764-2090 Костик М.М. https://orcid.org/0000-0002-1180-8086
Summary
В статье приведены данные о патогенезе системной красной волчанки (СКВ), описаны различные молекулярные механизмы развития СКВ и волчаночноподобных синдромов. The paper presents data on the pathogenesis of systemic lupus erythematosus (SLE), and depicts various molecular mechanisms for the development of SLE and lupus-like syndromes. It describes groups of diseases, such as apoptotic defects; NETosis; interferonopathies; complement deficiency; autotolerance disorders associated with mutations in the RAG1/RAG2 genes; hereditary metabolic diseases (prolidase deficiency, deficiency of adenosine deaminase 2; lysinuric protein intolerance; and α-mannosidase deficiency). Помимо «классической» СКВ с неменделевским типом наследования существуют так называемые моногенные волчанки (точнее, моногенные волчаночноподобные заболевания). В патогенезе СКВ играют роль как нарушение процессов апоптоза в целом (для любых клеток организма), так и связанные с этим аномалии созревания клеток иммунной системы. Нетоз (NETosis) – особая форма клеточной смерти нейтрофила, сопровождающаяся образованием внеклеточной нейтрофильной ловушки
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