Acute systemic lupus erythematosus in IgA deficiency: Mechlorethamine hydrochloride therapy

1975 ◽  
Vol 42 (4) ◽  
pp. 327-334 ◽  
Author(s):  
J. D. Clough
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Iga Deficiency ◽  
Systemic Lupus

scholarly journals Brief Report:IFIH1Mutation Causes Systemic Lupus Erythematosus With Selective IgA Deficiency

2015 ◽  
Vol 67 (6) ◽  
pp. 1592-1597 ◽  
Author(s):  
Lien Van Eyck ◽  
Lien De Somer ◽  
Diana Pombal ◽  
Simon Bornschein ◽  
Glynis Frans ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Iga Deficiency ◽  
Systemic Lupus ◽  
Selective Iga Deficiency

scholarly journals Serum immunoglobulin a deficiency and autoimmune comorbidities: a crossectional study in 281 patients with systemic lupus erythematosus

2020 ◽  
Vol 66 (6) ◽  
pp. 752-756
Author(s):  
Gustavo Felício Alexandroni Linzmeyer ◽  
Fabiane Karen Miyake ◽  
Thiago Alberto F. C. Gomes Dos Santos ◽  
Thelma L Skare
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Autoimmune Disease ◽  
Autoimmune Diseases ◽  
Clinical Data ◽  
Lupus Erythematosus ◽  
Immunoglobulin A ◽  
Hashimoto Thyroiditis ◽  
Iga Deficiency ◽  
Systemic Lupus ◽  
High Prevalence

SUMMARY OBJECTIVE To study the profile of associated autoimmune diseases in a series of patients with systemic lupus erythematosus (SLE) and see if such associations are linked to IgA deficiency. METHODS Two hundred eighty-one patients with SLE were studied for Ig A levels by nephelometry. Levels equal to or under 0.05g/dL were considered as IgA deficiency. Epidemiological and clinical data, including the presence of associated autoimmune diseases, were extracted from the patient’s charts. RESULTS Ig A deficiency was found in 6% of the patients. In 30.2% of SLE patients, there was at least one more autoimmune disease; Hashimoto thyroiditis and Sjögren’s syndrome were the most common. No association between the occurrence of associated autoimmune disease with IgA deficiency was found. CONCLUSIONS There is a high prevalence of autoimmune diseases associated with SLE. IgA deficiency does not affect the presence of these associations.

scholarly journals Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient

2021 ◽  
Vol 9 ◽  
Author(s):  
Francesca Conti ◽  
Arianna Catelli ◽  
Cristina Cifaldi ◽  
Lucia Leonardi ◽  
Rita Mulè ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Immune Dysregulation ◽  
Iga Deficiency ◽  
Splice Acceptor Site ◽  
Acceptor Site ◽  
Systemic Lupus ◽  
Increased Risk ◽  
Phosphoinositide 3 Kinase ◽  
Risk Of Cancer

Introduction: Activated phosphoinositide 3-kinase-δ syndrome 2 (APDS2) is a rare primary immune regulatory disorder caused by heterozygous gain of function mutation in the PIK3R1 gene encoding PI3Kδ regulatory p85α subunit and resulting in PI3Kδ hyperactivation. Clinical features range from recurrent infections to manifestations of immune dysregulation like autoimmunity, inflammation, systemic lymphoproliferation, and increased risk of cancer. We describe a new dominant PIK3R1 mutation causing APDS2 presenting with lymphoma and systemic refractory autoimmunity.Case Presentation: A 30-year-old woman was referred to the Immunology Unit of our hospital for uncontrolled systemic lupus erythematosus, including chilblains lesions, systemic lymphoproliferation and IgA deficiency. At 19 years of age, she was diagnosed with Hodgkin's lymphoma. Subsequently, she presented systemic lupus erythematosus onset, with episodes of severe exacerbation, including autoimmune hemolytic anemia and pleuro-pericarditis. Initial clinical response to conventional treatments was reported. Immunological investigations performed during our first observation showed severe lymphopenia, IgA deficiency, elevated IgM with reduced IgG2 levels, and low vaccination antibody titers. Quantitative real-time polymerase chain reaction (PCR) assay for Cytomegalovirus and Epstein-Barr virus showed low viral loads for both viruses in serum. An increase of serum inflammatory markers highlighted persistent systemic hyperinflammation. The next-generation sequencing (NGS)-based gene panel tests for primary immunodeficiency showed a heterozygous A>G substitution in the splice acceptor site at c.1300-2 position of PIK3R1, leading to exon-skipping.Conclusion: This case emphasizes the importance of suspecting primary immune regulatory disorders in young adults, predominantly showing a severe, aggressive, and refractory to treatment immune dysregulation phenotype, even in the absence of major infectious diseases at the onset. Different treatments can be promptly started, and a delayed diagnosis can highly impact the outcome. Targeted therapy against PI3Kδ pathway defect effectively improves drug-resistant autoimmunity, lymphoproliferation, and risk of progression to malignancy; eligible patients could benefit from its use even as a bridge therapy to transplantation, currently the only definitive curative treatment. Therefore, identifying genetic mutation and prompt targeted treatment are essential to control disease manifestations, prevent long-term sequelae, and enable curative HSCT in APDS2 patients.

scholarly journals Selective IgA deficiency in a case of systemic lupus erythematosus

1986 ◽  
Vol 9 (3) ◽  
pp. 224-229
Author(s):  
Taijiro Ishiyama ◽  
Sotaro Abe ◽  
Seiichi Horie ◽  
Naoki Sugaya ◽  
Yoshihisa Wakabayashi ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Iga Deficiency ◽  
Systemic Lupus ◽  
Selective Iga Deficiency

scholarly journals Gain-of-function mutation in IFIH1 can cause both aicardi-goutières syndrome and systemic lupus erythematosus with IgA-deficiency

2014 ◽  
Vol 12 (S1) ◽  
Author(s):  
Lien Van Eyck ◽  
Lien De Somer ◽  
Diana Pombal ◽  
Simon Bornschein ◽  
Francis de Zegher ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Iga Deficiency ◽  
Systemic Lupus ◽  
Gain Of Function
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