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Quoted phrase not found in phrase index: "Immunodeficiency syndrome with autoimmunity"
Page 1
Anti-interferon-gamma autoantibody-associated immunodeficiency.
Shih HP, Ding JY, Yeh CF, Chi CY, Ku CL. Shih HP, et al. Curr Opin Immunol. 2021 Oct;72:206-214. doi: 10.1016/j.coi.2021.05.007. Epub 2021 Jun 25. Curr Opin Immunol. 2021. PMID: 34175547 Review.
Specific HLA class II molecules are associated with these autoantibodies, which provide a genetic basis for the high prevalence of this immunodeficiency syndrome in certain ethnic groups. Salmonellosis and herpes zoster reactivation are observed in more than …
Specific HLA class II molecules are associated with these autoantibodies, which provide a genetic basis for the high prevalence of this i …
B lymphocytes: how they develop and function.
LeBien TW, Tedder TF. LeBien TW, et al. Blood. 2008 Sep 1;112(5):1570-80. doi: 10.1182/blood-2008-02-078071. Blood. 2008. PMID: 18725575 Free PMC article. Review.
The decades that followed have witnessed a continuum of unfolding complexities in B-cell development, subsets, and function that could not have been predicted. Some of the landmark discoveries that led to our current understanding of B lymphocytes as the source of protecti …
The decades that followed have witnessed a continuum of unfolding complexities in B-cell development, subsets, and function that could not h …
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
Boussard C, Delage L, Gajardo T, Kauskot A, Batignes M, Goudin N, Stolzenberg MC, Brunaud C, Panikulam P, Riller Q, Moya-Nilges M, Solarz J, Repérant C, Durel B, Bordet JC, Pellé O, Lebreton C, Magérus A, Pirabakaran V, Vargas P, Dupichaud S, Jeanpierre M, Vinit A, Zarhrate M, Masson C, Aladjidi N, Arkwright PD, Bader-Meunier B, Baron Joly S, Benadiba J, Bernard E, Berrebi D, Bodemer C, Castelle M, Charbit-Henrion F, Chbihi M, Debray A, Drabent P, Fraitag S, Hié M, Landman-Parker J, Lhermitte L, Moshous D, Rohrlich P, Ruemmele F, Welfringer-Morin A, Tusseau M, Belot A, Cerf-Bensussan N, Roelens M, Picard C, Neven B, Fischer A, Callebaut I, Ménager M, Sepulveda FE, Adam F, Rieux-Laucat F. Boussard C, et al. Blood. 2023 Jun 1;141(22):2713-2726. doi: 10.1182/blood.2022018486. Blood. 2023. PMID: 36952639
Knock down of DOCK11 recapitulated these abnormal cellular phenotypes in monocytes-derived dendritic cells and primary activated T cells from healthy controls. Lastly, in line with the patients' autoimmune manifestations, we also observed abnormal regulatory T-cell …
Knock down of DOCK11 recapitulated these abnormal cellular phenotypes in monocytes-derived dendritic cells and primary activated T cells fro …
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velas… See abstract for full author list ➔ Leiding JW, et al. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
Infections were reported in 72% of the cohort. A cellular and humoral immunodeficiency was observed in 37% and 51% of patients, respectively. ...CONCLUSION: STAT3 GOF patients present with a wide array of immune-mediated disease including lymphoproliferation, aut …
Infections were reported in 72% of the cohort. A cellular and humoral immunodeficiency was observed in 37% and 51% of patients …
Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.
Lisco A, Ortega-Villa AM, Mystakelis H, Anderson MV, Mateja A, Laidlaw E, Manion M, Roby G, Higgins J, Kuriakose S, Walkiewicz MA, Similuk M, Leiding JW, Freeman AF, Sheikh V, Sereti I. Lisco A, et al. N Engl J Med. 2023 May 4;388(18):1680-1691. doi: 10.1056/NEJMoa2202348. N Engl J Med. 2023. PMID: 37133586 Free PMC article.
BACKGROUND: Idiopathic CD4 lymphocytopenia (ICL) is a clinical syndrome that is defined by CD4 lymphopenia of less than 300 cells per cubic millimeter in the absence of any primary or acquired cause of immunodeficiency. ...We also performed longitudinal linear mixed …
BACKGROUND: Idiopathic CD4 lymphocytopenia (ICL) is a clinical syndrome that is defined by CD4 lymphopenia of less than 300 cells per …
DOCK8 deficiency.
Su HC, Jing H, Zhang Q. Su HC, et al. Ann N Y Acad Sci. 2011 Dec;1246:26-33. doi: 10.1111/j.1749-6632.2011.06295.x. Ann N Y Acad Sci. 2011. PMID: 22236427 Review.
The discovery that loss-of-function mutations in the gene DOCK8 are responsible for most forms of autosomal recessive hyper-IgE syndrome and some forms of combined immunodeficiency without elevated serum IgE has led to studies into the immunopathogenesis of this dis …
The discovery that loss-of-function mutations in the gene DOCK8 are responsible for most forms of autosomal recessive hyper-IgE syndrome …
Treatment of inflammatory complications in common variable immunodeficiency (CVID): current concepts and future perspectives.
Fevang B. Fevang B. Expert Rev Clin Immunol. 2023 Jun;19(6):627-638. doi: 10.1080/1744666X.2023.2198208. Epub 2023 Apr 6. Expert Rev Clin Immunol. 2023. PMID: 36996348 Review.
INTRODUCTION: Patients with common variable immunodeficiency (CVID) have a high frequency of inflammatory complications like autoimmune cytopenias, interstitial lung disease and enteropathy. ...AREAS COVERED: This review will focus on current medical treatment of in …
INTRODUCTION: Patients with common variable immunodeficiency (CVID) have a high frequency of inflammatory complications like autoi …
The five major autoimmune diseases increase the risk of cancer: epidemiological data from a large-scale cohort study in China.
Zhou Z, Liu H, Yang Y, Zhou J, Zhao L, Chen H, Fei Y, Zhang W, Li M, Zhao Y, Zeng X, Zhang F, Yang H, Zhang X. Zhou Z, et al. Cancer Commun (Lond). 2022 May;42(5):435-446. doi: 10.1002/cac2.12283. Epub 2022 Mar 31. Cancer Commun (Lond). 2022. PMID: 35357093 Free PMC article.
BACKGROUND: Cancer incidence and mortality have received critical attention during the long-term management of morbidities in patients with autoimmune diseases (AIDs). This study aimed to investigate and compare the risk of cancer associated with five major AIDs in a large …
BACKGROUND: Cancer incidence and mortality have received critical attention during the long-term management of morbidities in patients with …
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.
Jauch AJ, Bignucolo O, Seki S, Ghraichy M, Delmonte OM, von Niederhäusern V, Higgins R, Ghosh A, Nishizawa M, Tanaka M, Baldrich A, Köppen J, Hirsiger JR, Hupfer R, Ehl S, Rensing-Ehl A, Hopfer H, Prince SS, Daley SR, Marquardsen FA, Meyer BJ, Tamm M, Daikeler TD, Diesch T, Kühne T, Helbling A, Berkemeier C, Heijnen I, Navarini AA, Trück J, de Villartay JP, Oxenius A, Berger CT, Hess C, Notarangelo LD, Yamamoto H, Recher M. Jauch AJ, et al. J Allergy Clin Immunol. 2023 Aug;152(2):500-516. doi: 10.1016/j.jaci.2023.03.022. Epub 2023 Mar 31. J Allergy Clin Immunol. 2023. PMID: 37004747 Free PMC article.
BACKGROUND: Biallelic mutations in LIG4 encoding DNA-ligase 4 cause a rare immunodeficiency syndrome manifesting as infant-onset life-threatening and/or opportunistic infections, skeletal malformations, radiosensitivity and neoplasia. ...OBJECTIVES: This study explo …
BACKGROUND: Biallelic mutations in LIG4 encoding DNA-ligase 4 cause a rare immunodeficiency syndrome manifesting as infant-ons …
Diabetes and HIV.
Noubissi EC, Katte JC, Sobngwi E. Noubissi EC, et al. Curr Diab Rep. 2018 Oct 8;18(11):125. doi: 10.1007/s11892-018-1076-3. Curr Diab Rep. 2018. PMID: 30294763 Review.
HIV and its treatment have been identified as potential contributors. Co-infections frequently observed during HIV infection also significantly influence both the epidemiological and pathophysiological of the link between HIV and diabetes. ...ARTs have also led to an incre …
HIV and its treatment have been identified as potential contributors. Co-infections frequently observed during HIV infection also sig …
983 results