Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024141 (systemic lupus erythematosus)
 44,322 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Lupus-like lesions in X-linked chronic granulomatous disease (X-CGD) are rare. To our knowledge, only 2 cases have previously been published. We report a 2.5-year-old boy with X-CGD whose clinical findings were consistent with cutaneous lupus erythematosus. Conventional histopathology showed epidermal atrophy, parakeratosis, follicular plugging and areas of hydropic degeneration. The most striking feature was a neutrophilic interstitial infiltrate with leukocytoclasia in the upper dermis. The X chromosome of our patient--studied with 2 endonucleases (PstI and TaqI) and 5 probes (P99.6, pERT 87.8, pERT87.15, XJ1.1 and 754)--was recombinant, but we believe that this is an incidental finding, not related to the disease. Neutrophilic infiltrate and leukocytoclasia could be characteristic histopathologic findings of lupus-like lesions in these patients.
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PMID:Lupus like lesions in a patient with X-linked chronic granulomatous disease and recombinant X chromosome. 940 82

Neutrophil has been widely recognized as body's first line of defence against pathogens. NETosis was first reported in 2004 as a programmed cell death of neutrophil and distinguished from apoptosis and necrosis. This phenomenon has been already observed in both basic and clinical research. NETosis is induced by various stimulants such as PMA, IL-8, DAMPs/PAMPs, bacteria, and antigen-antibody complex including self-antibody such as ANCA. It is known that there are two types of NETosis following bacterial infections. Although both of them have the ability to capture and kill bacteria, they also damage the host tissues. The inhibition of the NETs-related enzymes prevents the NETs formation at that time. The production of O2- from respiratory burst of neutrophils triggers NETs formation. In the first type of NETosis, neutrophils are completely collapsed, while in the second type, they maintain the morphology and the ability of phagocytosis. However, bacteria can escape from NETs by degrading NETs with their secreting nucleases. Thus the animal models of infection, using these bacteria, oftentimes suffer from severe infectious diseases. Human CGD (Chronic Granulomatosis Disease) patients who do not have Nox2 are immunocompromised, and highly susceptible to infection due to the defect of NETs formation. On the other hand, SLE patients are unable to break down the NETs as their serum inhibits the DNase1 activity, which results in autoantibody generation against NETs as well as self-DNA. It is getting clear that there is a relationship between inflammatory diseases, including infectious diseases, Sepsis and autoimmune diseases, and NETs. Therefore, it is important to re-evaluate the inflammatory disorders from NETs' perspective, and to incorporate the emerging concepts for better understanding the mechanisms involved.
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PMID:[Viewing sepsis and autoimmune disease in relation with infection and NETs-formation]. 2986 35

Here we describe two term male infants diagnosed with X-linked CGD who present, in addition to frequent infection, with a unique papulopustular skin rash. CGD is caused by a number of genetic defects that impair phagocyte function. This disease results in recurrent infections and granuloma formation. Rarely do patients develop cutaneous symptoms, unless associated with autoimmune disorders such as systemic erythematous lupus (1). Each male infant mentioned here was diagnosed with CGD based on abnormal DHR testing and confirmatory genetic testing. The presenting papulopustular dermatitis was initially characterized as non-classic appearing eczema and subsequently found to be refractory to usual eczema treatment and antibiotics. After obtaining written informed consent from both families, we have documented photographs of the development of a characteristic rash in two newly diagnosed infants with CGD. One infant underwent cutaneous biopsy with histologic evaluation and negative cultures. The dermatitis for both infants was refractory to topical and systemic therapies, and resolved after bone marrow transplantation. Our objective was to characterize cutaneous findings in X-linked CGD and emphasize the importance of considering further immune workup in patients who present with unusual cutaneous findings that do not fit with common infant rashes in conjunction with concerning features for primary immunodeficiency.
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PMID:Papulopustular Dermatitis in X-Linked Chronic Granulomatous Disease. 3076 61