scholarly journals Spectrum of juvenile antiphospholipid syndrome in two siblings: Case reports and review of literature

2020 ◽  
Author(s):  
Basil Fathalla ◽  
Khulood W Khawaja ◽  
Samina Afzal
Keyword(s):  
Lupus Erythematosus ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Human Leukocyte ◽  
Anticardiolipin Antibodies ◽  
Leukocyte Antigen ◽  
Hla Dr ◽  
Whole Exome ◽  
High Index Of Suspicion ◽  
Diagnosis Criteria

Abstract BackgroundAntiphospholipid syndrome (APS) in children together with familial APS is extremely rare, differs from adult APS, and has no validated diagnosis criteria. Use of adult APS classification criteria for the diagnosis of pediatric APS may result in missed or delayed diagnoses in children as non-thrombotic clinical manifestations may precede thrombotic manifestations for prolonged periods. We report rare triple positivity of antiphospholipid antibodies (aPL) in two siblings presenting with a variable spectrum of juvenile primary APS manifestations and a review of literature.Case reportTwo siblings presented with a variable spectrum of juvenile primary APS manifestations at 13 years of age. Both patients had high triple aPL positivity on multiple occasions at least 12 weeks apart including positive anticardiolipin antibodies, anti-β2-glycoprotein 1 antibodies, and lupus anticoagulant tests. The older brother, currently 16 years of age, had a spectrum of clinical manifestations during his disease course including cutaneous thrombotic microangiopathy, arthralgia, and pulmonary embolism. His sister is currently 14 years of age and she presented with non-thrombotic clinical manifestations, was immediately screened, and diagnosed with triple aPL positivity at 13 years of age. A seven years old healthy brother was screened once and had negative aPL test results. Systemic investigations including work up for systemic lupus erythematosus in both symptomatic siblings were unremarkable and whole exome sequencing was inconclusive. Human leukocyte antigen (HLA) screen revealed positive HLA-DR4 and DQB1*0302 tests for both symptomatic siblings but not for the healthy brother.ConclusionWe conclude that non-thrombotic clinical manifestations may precede thrombotic manifestations in primary APS in children, and this may cause significant delays in the diagnosis. Familial primary APS is very rare but may occur and high index of suspicion is required to test relatives with subtle clinical manifestations. Our case reports further support possible HLA-DR and -DQ associations with aPL antibodies.

scholarly journals A Novel Autoantibody against β2-Glycoprotein I/HLA Class II Complexes in Antiphospholipid Syndrome

2021 ◽  
Author(s):  
Kenji Tanimura ◽  
Yuki Sasagawa ◽  
Masashi Deguchi ◽  
Noriko Arase ◽  
Hisashi Arase ◽  
...  
Keyword(s):  
Antiphospholipid Syndrome ◽  
Clinical Manifestations ◽  
Human Leukocyte ◽  
Class Ii ◽  
Cross Sectional Study ◽  
Hla Class Ii ◽  
Cross Sectional ◽  
Leukocyte Antigen ◽  
Glycoprotein I ◽  
Hla Dr

We have found that a novel autoantibody against β2-glycoprotein I (β2GPI)/human leukocyte antigen (HLA) class II complexes (anti-β2GPI/HLA-DR) is involved in the pathogenesis of antiphospholipid syndrome (APS). It was also found that many APS patients who were negative for conventional antiphospholipid antibodies (aPLs) possessed anti-β2GPI/HLA-DR. These results suggested that anti-β2GPI/HLA-DR measurements may be more sensitive for diagnosing APS than conventional aPLs tests. Recurrent pregnancy loss (RPL) is one of the clinical manifestations of APS. Therefore, a prospective, multicenter, cross-sectional study were conducted to assess whether anti-β2GPI/HLA-DR is also associated with RPL. This study of 227 couples with RPL revealed that 22.9% (52/227) of RPL women tested positive for anti-β2GPI/HLA-DR, and 24 (19.8%) of the 121 couples with unexplained RPL tested positive for anti-β2GPI/HLA-DR. Interestingly, thirty-five of the 52 (67.3%) RPL patients who were positive for anti-β2GPI/HLA-DR possessed no conventional aPLs of criteria. This novel autoantibody against β2GPI/HLA class II complexes may be a major risk factor for RPL, and it may be a promising biomarker for diagnosing APS.

Expression of human leukocyte antigen-G in systemic lupus erythematosus

2008 ◽  
Vol 69 (1) ◽  
pp. 9-15 ◽  
Author(s):  
Silvia Rosado ◽  
Gema Perez-Chacon ◽  
Susana Mellor-Pita ◽  
Inmaculada Sanchez-Vegazo ◽  
Carmen Bellas-Menendez ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Human Leukocyte Antigen ◽  
Lupus Erythematosus ◽  
Human Leukocyte ◽  
Systemic Lupus ◽  
Leukocyte Antigen ◽  
Human Leukocyte Antigen G

scholarly journals Myeloid phenotypes in severe COVID-19 predict secondary infection and mortality: a pilot study

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Clémence Marais ◽  
Caroline Claude ◽  
Nada Semaan ◽  
Ramy Charbel ◽  
Simon Barreault ◽  
...  
Keyword(s):  
Critically Ill ◽  
Host Response ◽  
Secondary Infection ◽  
Myeloid Cells ◽  
Suppressor Cells ◽  
Human Leukocyte ◽  
Myeloid Derived Suppressor Cells ◽  
Phenotypic Characteristics ◽  
Leukocyte Antigen ◽  
Hla Dr

Abstract Background De-regulated host response to severe coronavirus disease 2019 (COVID-19), directly referring to the concept of sepsis-associated immunological dysregulation, seems to be a strong signature of severe COVID-19. Myeloid cells phenotyping is well recognized to diagnose critical illness-induced immunodepression in sepsis and has not been well characterized in COVID-19. The aim of this study is to review phenotypic characteristics of myeloid cells and evaluate their relations with the occurrence of secondary infection and mortality in patients with COVID-19 admitted in an intensive care unit. Methods Retrospective analysis of the circulating myeloid cells phenotypes of adult COVID-19 critically ill patients. Phenotyping circulating immune cells was performed by flow cytometry daily for routine analysis and twice weekly for lymphocytes and monocytes subpopulations analysis, as well as monocyte human leukocyte antigen (mHLA)-DR expression. Results Out of the 29 critically ill adult patients with severe COVID-19 analyzed, 12 (41.4%) developed secondary infection and six patients died during their stay. Monocyte HLA-DR kinetics was significantly different between patients developing secondary infection and those without, respectively, at day 5–7 and 8–10 following admission. The monocytes myeloid-derived suppressor cells to total monocytes ratio was associated with 28- and 60-day mortality. Those myeloid characteristics suggest three phenotypes: hyperactivated monocyte/macrophage is significantly associated with mortality, whereas persistent immunodepression is associated with secondary infection occurrence compared to transient immunodepression. Conclusions Myeloid phenotypes of critically ill COVID-19 patients may be associated with development of secondary infection, 28- and 60-day mortality.

scholarly journals Shared HLA Class II in Six Autoimmune Diseases in Latin America: A Meta-Analysis

2012 ◽  
Vol 2012 ◽  
pp. 1-10 ◽  
Author(s):  
Paola Cruz-Tapias ◽  
Oscar M. Pérez-Fernández ◽  
Adriana Rojas-Villarraga ◽  
Alberto Rodríguez-Rodríguez ◽  
María-Teresa Arango ◽  
...  
Keyword(s):  
Risk Factor ◽  
Autoimmune Diseases ◽  
Lupus Erythematosus ◽  
Meta Analysis ◽  
Human Leukocyte ◽  
Class Ii ◽  
Hla Class Ii ◽  
Genetic Characteristics ◽  
Latin Americans ◽  
Leukocyte Antigen

The prevalence and genetic susceptibility of autoimmune diseases (ADs) may vary depending on latitudinal gradient and ethnicity. The aims of this study were to identify common human leukocyte antigen (HLA) class II alleles that contribute to susceptibility to six ADs in Latin Americans through a meta-analysis and to review additional clinical, immunological, and genetic characteristics of those ADs sharing HLA alleles. DRB1∗03:01 (OR: 4.04; 95%CI: 1.41–11.53) was found to be a risk factor for systemic lupus erythematosus (SLE), Sjögren's syndrome (SS), and type 1 diabetes mellitus (T1D). DRB1∗04:05 (OR: 4.64; 95%CI: 2.14–10.05) influences autoimmune hepatitis (AIH), rheumatoid arthritis (RA), and T1D; DRB1∗04:01 (OR: 3.86; 95%CI: 2.32–6.42) is a susceptibility factor for RA and T1D. Opposite associations were found between multiple sclerosis (MS) and T1D. DQB1∗06:02 and DRB1∗15 alleles were risk factors for MS but protective factors for T1D. Likewise, DQB1∗06:03 allele was a risk factor for AIH but a protective one for T1D. Several common autoantibodies and clinical associations as well as additional shared genes have been reported in these ADs, which are reviewed herein. These results indicate that in Latin Americans ADs share major loci and immune characteristics.

scholarly journals Sampling From the Proteome to the Human Leukocyte Antigen-DR (HLA-DR) Ligandome ProceedsViaHigh Specificity

2016 ◽  
Vol 15 (4) ◽  
pp. 1412-1423 ◽  
Author(s):  
Geert P. M. Mommen ◽  
Fabio Marino ◽  
Hugo D. Meiring ◽  
Martien C. M. Poelen ◽  
Jacqueline A. M. van Gaans-van den Brink ◽  
...  
Keyword(s):  
Human Leukocyte Antigen ◽  
Human Leukocyte ◽  
Leukocyte Antigen ◽  
Hla Dr

Human Leukocyte Antigen (HLA)-Linked Control of Susceptibility to Pulmonary Tuberculosis and Association with HLA-DR Types

1983 ◽  
Vol 148 (4) ◽  
pp. 676-681 ◽  
Author(s):  
S. P. N. Singh ◽  
N. K. Mehra ◽  
H. B. Dingley ◽  
J. N. Pande ◽  
M. C. Vaidya
Keyword(s):  
Pulmonary Tuberculosis ◽  
Human Leukocyte Antigen ◽  
Human Leukocyte ◽  
Leukocyte Antigen ◽  
Hla Dr

scholarly journals Reiter’s syndrome - disease of young men: Analysis of 312 patients

2014 ◽  
Vol 67 (7-8) ◽  
pp. 222-230 ◽  
Author(s):  
Jaroslav Bojovic ◽  
Natasa Strelic ◽  
Ljiljana Pavlica
Keyword(s):  
Synovial Fluid ◽  
Human Leukocyte Antigen ◽  
Reactive Arthritis ◽  
Mononuclear Cells ◽  
Clinical Manifestations ◽  
Human Leukocyte ◽  
Multisystem Disease ◽  
Peripheral Blood Mononuclear ◽  
Leukocyte Antigen ◽  
Number Of Patients

Introduction. Reiter?s syndrome is reactive arthritis occurring after acute urogenital (urethritis, cervicitis) or enterocolitis infections. The associated ophthalmological and/or mucocutaneous changes are full clinical manifestations of this disease. This paper was aimed at analyzing clinical and radiological characteristics and findings of possible etiological factors and protocol for Reiter?s syndrome therapy. Material and Methods. Of 312 patients included in the study, 279 were men and 33 were women, the ratio between them being 8.5:1. The disease was diagnosed based on clinical evidence of two basic characteristics of Reiter?s syndrome: arthritis preceded by acute urogenital or enteral infection. Results. Urogenital and enterocolitic form of disease was found in 242 (77.5%) and 52 (16.5%) patients, respectively; whereas the initial cause was not discovered in 18 patients (6%). Three or two main signs of Reiter?s syndrome were present in approximately the same number of patients (41.7% and 44.2%), whereas all four signs of disease were present in 14.1% of the patients. Acute or sub-acute form was present in 40.5%, while recurrent and chronic disease was diagnosed in 31% and 28.5% of the patients, respectively. The most frequent clinical manifestation of this disease was on the locomotor system as asymmetrical oligoarthritis localized in lower extremities, present in 69.4% of the patients. Chlamydia trachomatis was found in the synovial fluid in 54% of patients (20/37), ureaplasma or mycoplasma was isolated in the synovial tissue of 73.1% of patients (30/41) and in the peripheral blood mononuclear cells in 93.2% of patients (41/44). Human leukocyte antigen B27 was present in 83.3% of patients. Conclusion. Reiter?s syndrome is a multisystem disease, predominantly occurring in human leukocyte antigen B27 positive young males. The fact that the causative agents are found in the synovial membrane or synovial fluid is indicative of infectious rather than reactive arthritis.

scholarly journals Hla—dr antigens and anticardiolipin antibodies in northern italian systemic lupus erythematosus patients

1988 ◽  
Vol 31 (12) ◽  
pp. 1568-1570 ◽  
Author(s):  
M. Savi ◽  
G. F. Ferraccioli ◽  
T. M. Neri ◽  
P. Zanelli ◽  
P. P. Dall'Aglio ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Anticardiolipin Antibodies ◽  
Systemic Lupus ◽  
Hla Dr

scholarly journals Increased CD69 and Human Leukocyte Antigen-DR Expression on T Lymphocytes in Insulin-Dependent Diabetes Mellitus of Long Standing

1998 ◽  
Vol 83 (6) ◽  
pp. 2204-2209 ◽  
Author(s):  
Alois Gessl ◽  
Werner Waldhäusl
Keyword(s):  
Diabetes Mellitus ◽  
T Cells ◽  
Human Leukocyte ◽  
Insulin Dependent Diabetes Mellitus ◽  
Dependent Diabetes Mellitus ◽  
Cd4 Cells ◽  
Cd8 Cells ◽  
Leukocyte Antigen ◽  
Hla Dr ◽  
Insulin Dependent

To better define prevailing activation of circulating T cell subsets in insulin-dependent diabetes mellitus (IDDM) of recent onset (DM; n= 31; median age ± sd,, 28 ± 6.9 yr) and of long standing (DML; n = 27; age, 33 ± 10.4 yr; median duration of disease, 105 months), CD4+ and CD8+ T cells were analyzed to determine their naive and memory subsets as well as their expression of human leukocyte antigen (HLA)-DR, interleukin-2 receptor α-chain (CD25), and CD69 by three-color flow cytometry. Twenty-six healthy subjects (HS; age, 32.0 ± 8.2 yr) served as controls. No deviation was seen in either IDDM group compared to HS in CD25 expression on CD4+ or CD8+ cells or in their CD45RA+ or CD45RA− subsets. HLA-DR expression, however, was increased (P < 0.05) in total CD8+ cells and CD45RA+ cells, with CD45RA− CD8+ cells joining the prevailing pattern only in DML. Among CD4+ cells, increased expression of HLA-DR molecules was restricted to total and CD45RA− cells in DML. CD69 expression did not differ between IDDM and HS, but differed between DML (CD4+, CD8+, and CD45RA− CD4+) and DM only. In conclusion, our data demonstrate that HLA-DR expression in IDDM is restricted to memory cells (CD45RA−) among CD4+ cells in DML and is more markedly confined to naive (CD45RA+) than to memory CD8+ cells, whereas the early activation antigen CD69 is more readily expressed in DML than in DM. The observed activation of circulating T cells suggests an ongoing immune process in IDDM both at clinical manifestation and after long duration.

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