Effect of Moderate Intensity Exercise on Infection Rates in Individuals with Primary Immunodeficiency Disease: A Preliminary Pilot Randomized Investigation

2021 ◽  
pp. 1-12
Author(s):  
Kerri Sowers ◽  
Bini Litwin ◽  
Alan Lee ◽  
Mary Lou Galantino
Keyword(s):  
Primary Immunodeficiency ◽  
Primary Immunodeficiency Disease ◽  
Moderate Intensity ◽  
Infection Rates ◽  
Moderate Intensity Exercise ◽  
Immunodeficiency Disease

scholarly journals OP0102 GENE SCREENING OF PRIMARY IMMUNODEFICIENCY DISEASES IN PATIENTS WITH JUVENILE SYSTEMIC LUPUS ERYTHEMATOSUS

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 66.2-66
Author(s):  
J. LI ◽  
W. Wang ◽  
C. Y. Wang ◽  
J. Y. Pan ◽  
H. Song
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Primary Immunodeficiency ◽  
Lupus Erythematosus ◽  
Gene Sequencing ◽  
Primary Immunodeficiency Disease ◽  
Type I ◽  
Cmv Infection ◽  
Systemic Lupus ◽  
Genetic Tests ◽  
Immunodeficiency Disease

Background:Systemic lupus erythematosus (SLE) is one of the most common auto-immune diseases in childhood. Primary immunodeficiency disease (PID) patients may present or combine with autoimmune diseases.Objectives:This study aimed to perform gene sequencing via high-throughput sequencing technology in a series of Chinese pediatric SLE patients, and investigate the concomitant situation of PIDs and SLE. Gene sequencing results may help clarify the pathogenesis of SLE.Methods:This was a retrospective case series of SLE children who referred to the Peking Union Medical College Hospital between 01/2016 and 09/2019. Genetic tests were performed in patients who met the inclusion criteria. We then collected demographic, clinical, and treatment information of all involved patients. Descriptive statistics were used.Results:Seventy-one patients were finally included (eighteen boys and fifty-three girls). The median age at the time of disease onset was 9.5 (range, 3-15) years. It is notable that five patients experienced their first attack before the age of five. Twenty-seven patients showed a persistent increase in ESR during treatment, while thirteen cases presented with repeated CMV infection, thirty-four cases with persistent low complement levels, seven with basal ganglia calcification showed in skull CT or MRI, four with special type of rash (i.e., frostbite-like rash, discoid erythema, reticular erythema), two with obvious hepatosplenomegaly, and one case with type I diabetes. Gene sequencing results showed that about ten patients combine with primary immunodeficiency disease, including Aicardi-Goutières Syndrome (AGS) (n=4), Spondyloenchondro-dysplasia with immune dysregulation (SPENCDI) (n=1), STING-associated vasculopathy with onset in infancy (SAVI) (n=1), lysinuric protein intolerance (LPI) (n=1), Ras-associated autoimmune leukoproliferative disorder (RALD) (n=2).Conclusion:SLE patients who present atypical or refractory manifestations should attach importance to the existence of primary immunodeficiency disease. Genetic tests are recommended for patients with early-onset SLE, especially those with recurrent frostbite-like rash or persistent CMV infection since childhood.References:[1]T Tarr, B Dérfalvi, N Győri, et al. Similarities and differences between pediatric and adult patients with systemic lupus erythematosus[J]. Lupus. 2015, 24: 796–803.[2]Gupta S, Louis A G. Tolerance and Autoimmunity in Primary Immunodeficiency Disease: a Comprehensive Review[J]. Clinical Reviews in Allergy & Immunology, 2013, 45(2):162-169.Disclosure of Interests:None declared

Current Applications of Flow Cytometry in the Diagnosis of Primary Immunodeficiency Diseases

2004 ◽  
Vol 128 (1) ◽  
pp. 23-31
Author(s):  
Orieji C. Illoh
Keyword(s):  
Flow Cytometry ◽  
Primary Immunodeficiency ◽  
Laboratory Tests ◽  
Data Extraction ◽  
Relevant Information ◽  
Primary Immunodeficiency Disease ◽  
Data Sources ◽  
Primary Immunodeficiency Diseases ◽  
Immunodeficiency Diseases ◽  
Immunodeficiency Disease

Abstract Context.—To review the applications of flow cytometry in the diagnosis and management of primary immunodeficiency disease. Data Sources.—Articles describing the use of flow cytometry in the diagnosis of several primary immunodeficiency diseases were obtained through the National Library of Medicine database. Study Selection.—Publications that described novel and known applications of flow cytometry in primary immunodeficiency disease were selected. Review articles were included. Articles describing the different immunodeficiency diseases and methods of diagnosis were also selected. Data Extraction.—Approximately 100 data sources were analyzed, and those with the most relevant information were selected. Data Synthesis.—The diagnosis of many primary immunodeficiency diseases requires the use of several laboratory tests. Flow cytometry has become an important part of the workup of individuals suspected to have such a disorder. Knowledge of the pathogenesis of many of these diseases continues to increase, hence we acquire a better understanding of the laboratory tests that may be helpful in diagnosis. Conclusions.—Flow cytometry is applicable in the initial workup and subsequent management of several primary immunodeficiency diseases. As our understanding of the pathogenesis and management of these diseases increases, the use of many of these assays may become routine in hospitals.

scholarly journals Pregnancy, child bearing and prevention of giving birth to the affected children in patients with primary immunodeficiency disease; a case-series

2018 ◽  
Vol 18 (1) ◽  
Author(s):  
Saba Sheikhbahaei ◽  
Roya Sherkat ◽  
Nadezhda Camacho-Ordonez ◽  
Razie Khoshnevisan ◽  
Asadollah Kalantari ◽  
...  
Keyword(s):  
Primary Immunodeficiency ◽  
Case Series ◽  
Primary Immunodeficiency Disease ◽  
Child Bearing ◽  
Immunodeficiency Disease
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