journal
https://read.qxmd.com/read/33651234/thymopoiesis-alterations-in-dendritic-cells-and-tregs-and-reduced-t-cell-activation-in-successful-extracorporeal-photopheresis-treatment-of-gvhd
#1
Aisling M Flinn, Anna Ehrlich, Catherine Roberts, Xiao Nong Wang, Janet Chou, Andrew R Gennery
Acute graft-versus-host disease (aGVHD) is a significant complication of allogeneic hematopoietic stem cell transplant (HSCT) and negatively affects T cell reconstitution. Extracorporeal photopheresis (ECP) reduces aGVHD, but the mechanisms remain incompletely understood. Our objective was to examine the impact of ECP on thymopoiesis in pediatric aGVHD and the mechanisms at a cellular and transcriptional level. Sixteen pediatric HSCT patients were recruited: 6 with ECP-treated aGVHD, 5 without aGVHD, and 5 with aGVHD treated with corticosteroids only...
March 2, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33650027/novel-orai1-mutation-disrupts-channel-trafficking-resulting-in-combined-immunodeficiency
#2
Fang Yu, Nourhen Agrebi, Rafah Mackeh, Khaled Abouhazima, Khadija KhudaBakhsh, Mehdi Adeli, Bernice Lo, Amel Hassan, Khaled Machaca
Store-operated Ca2+ entry (SOCE) represents a predominant Ca2+ influx pathway in non-excitable cells. SOCE is required for immune cell activation and is mediated by the plasma membrane (PM) channel ORAI1 and the endoplasmic reticulum (ER) Ca2+ sensor STIM1. Mutations in the Orai1 or STIM1 genes abolish SOCE leading to combined immunodeficiency (CID), muscular hypotonia, and anhidrotic ectodermal dysplasia. Here, we identify a novel autosomal recessive mutation in ORAI1 in a child with CID. The patient is homozygous for p...
March 1, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33650026/gene-editing-rescues-in-vitro-t-cell-development-of-rag2-deficient-induced-pluripotent-stem-cells-in-an-artificial-thymic-organoid-system
#3
Cameron L Gardner, Mara Pavel-Dinu, Kerry Dobbs, Marita Bosticardo, Paul K Reardon, Justin Lack, Suk See DeRavin, Kent Le, Ezekiel Bello, Francesca Pala, Ottavia M Delmonte, Harry Malech, Amelie Montel-Hagan, Gay Crooks, Oreste Acuto, Matthew H Porteus, Luigi D Notarangelo
Severe combined immune deficiency (SCID) caused by RAG1 or RAG2 deficiency is a genetically determined immune deficiency characterized by the virtual absence of T and B lymphocytes. Unless treated with hematopoietic stem cell transplantation (HSCT), patients with RAG deficiency succumb to severe infections early in life. However, HSCT carries the risk of graft-versus-host disease. Moreover, a high rate of graft failure and poor immune reconstitution have been reported after unconditioned HSCT. Expression of the RAG genes is tightly regulated, and preclinical attempts of gene therapy with heterologous promoters have led to controversial results...
March 1, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33641045/upfront-enzyme-replacement-via-erythrocyte-transfusions-for-pnp-deficiency
#4
LETTER
Anna Eichinger, Horst von Bernuth, Cinzia Dedieu, Sebastian A Schroeder, Giancarlo la Marca, Michael H Albert, Fabian Hauck
No abstract text is available yet for this article.
February 27, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33629196/clinical-and-immunological-characteristics-of-63-patients-with-chronic-granulomatous-disease-hacettepe-experience
#5
Halil Tuna Akar, Saliha Esenboga, Deniz Cagdas, Sevil Oskay Halacli, Begum Ozbek, Karin van Leeuwen, Martin de Boer, Cagman Sun Tan, Yavuz Köker, Dirk Roos, Ilhan Tezcan
BACKGROUND: Chronic granulomatous disease (CGD), one of the phagocytic system defects, is the primary immunodeficiency caused by dysfunction of the NADPH oxidase complex which generates reactive oxygen species (ROS), which are essential for killing pathogenic microorganisms, especially catalase-positive bacteria and fungi. OBJECTIVE: The objective of our study was to assess the clinical and laboratory characteristics, treatment modalities, and prognosis of patients with CGD...
February 24, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33624217/lymphopenia-with-low-t-and-nk-cells-in-a-patient-with-usb1-mutation-rare-findings-in-clericuzio-type-poikiloderma-with-neutropenia
#6
LETTER
Sevgi Bilgic Eltan, Asena Pınar Sefer, İbrahim Serhat Karakus, Ahmet Ozen, Elif Karakoc-Aydiner, Safa Baris
No abstract text is available yet for this article.
February 23, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33619683/recurrent-chronic-hev-in-severe-combined-immunodeficiency
#7
LETTER
Prebashan Moodley, Andrew F Whyte, Ashwin Dhanda
No abstract text is available yet for this article.
February 22, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33616813/plasma-exchange-to-rescue-patients-with-autoantibodies-against-type-i-interferons-and-life-threatening-covid-19-pneumonia
#8
Nicolas de Prost, Paul Bastard, Romain Arrestier, Slim Fourati, Mathieu Mahévas, Sonia Burrel, Karim Dorgham, Guy Gorochov, Yacine Tandjaoui-Lambiotte, Iname Azzaoui, Ignacio Fernandes, Alain Combes, Jean-Laurent Casanova, Armand Mekontso-Dessap, Charles-Edouard Luyt
PURPOSE: To report four cases of life-threatening COVID-19 pneumonia in patients with high blood concentrations of neutralizing autoantibodies against type I interferons (IFNs), who were treated with plasma exchange (PE) as a rescue therapy. METHODS: Prospective case series, which included patients, diagnosed with RT-PCR-confirmed SARS-CoV-2 infection and positive autoantibodies against type I IFNs in two French intensive care units (ICUs) between October 8 and November 14, 2020...
February 22, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33611660/resolution-of-persistent-covid-19-after-convalescent-plasma-in-a-patient-with-b-cell-aplasia
#9
LETTER
Emily McKemey, Adrian M Shields, Sian E Faustini, Harriet J Hill, Aliaksandra Barnskaya, Zania Stamataki, Simon Gompertz, Alex G Richter, Davinder Dosanjh, Shyam Madathil
No abstract text is available yet for this article.
February 20, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33598806/the-ever-increasing-array-of-novel-inborn-errors-of-immunity-an-interim-update-by-the-iuis-committee
#10
Stuart G Tangye, Waleed Al-Herz, Aziz Bousfiha, Charlotte Cunningham-Rundles, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Eric Oksenhendler, Capucine Picard, Anne Puel, Jennifer Puck, Mikko R J Seppänen, Raz Somech, Helen C Su, Kathleen E Sullivan, Troy R Torgerson, Isabelle Meyts
The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity...
February 18, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33598805/eda-id-a-severe-clinical-presentation-associated-with-a-new-ikbkg-mutation
#11
LETTER
Coline Bret Puvilland, Bertrand Boisson, Mathieu Fusaro, Jacinta Bustamante, Yves Bertrand, Antony Ceraulo, Marie Ouachée-Chardin
No abstract text is available yet for this article.
February 17, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33591424/a-novel-333-bp-deletion-of-il10ra-in-chinese-patients-with-neonatal-onset-inflammatory-bowel-disease
#12
LETTER
Xiaomin Peng, Yulan Lu, Bingbing Wu, Xinran Dong, Wenbin Li, Huijun Wang, Ying Huang, Wenhao Zhou
No abstract text is available yet for this article.
February 16, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33570715/systemic-and-nodular-hyperinflammation-in-a-patient-with-refractory-familial-hemophagocytic-lymphohistiocytosis-2
#13
Julia E Segal, Jessica D Daley, Jessie L Barnum, Claudia M Salgado, Miguel Reyes-Mugica, Corinne Schneider, Serter Gumus, Darshit Thakrar, Steven W Allen, Scott W Canna
Familial hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome resulting from defective cytotoxicity. A previously healthy 3-month-old female presented with fever, irritability, abdominal distention, and tachypnea. She ultimately met all eight HLH-2004 diagnostic criteria, accompanied by elevated CXCL9. Initial empiric anti-inflammatory treatment included anakinra and IVIg, which stabilized ferritin and cytopenias. She had molecular and genetic confirmation of perforin deficiency and was started on dexamethasone and etoposide per HLH-94...
February 11, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33558980/inherited-card9-deficiency-in-a-child-with-invasive-disease-due-to-exophiala-dermatitidis-and-two-older-but-asymptomatic-siblings
#14
Yusuke Imanaka, Maki Taniguchi, Takehiko Doi, Miyuki Tsumura, Rie Nagaoka, Maiko Shimomura, Takaki Asano, Reiko Kagawa, Yoko Mizoguchi, Shuhei Karakawa, Koji Arihiro, Kohsuke Imai, Tomohiro Morio, Jean-Laurent Casanova, Anne Puel, Osamu Ohara, Katsuhiko Kamei, Masao Kobayashi, Satoshi Okada
PURPOSE: Autosomal recessive CARD9 deficiency predisposes patients to invasive fungal disease. Candida and Trichophyton species are major causes of fungal disease in these patients. Other CARD9-deficient patients display invasive diseases caused by other fungi, such as Exophiala spp. The clinical penetrance of CARD9 deficiency regarding fungal disease is surprisingly not complete until adulthood, though the age remains unclear. Moreover, the immunological features of genetically confirmed yet asymptomatic individuals with CARD9 deficiency have not been reported...
February 8, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33547548/a-patient-with-x-linked-agammaglobulinemia-and-covid-19-infection-treated-with-remdesivir-and-convalescent-plasma
#15
LETTER
Aled Iaboni, Natalie Wong, Stephen D Betschel
No abstract text is available yet for this article.
February 6, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33544358/immune-reconstitution-after-hematopoietic-stem-cell-transplantation-in-immunodeficiency-centromeric-instability-facial-anomalies-syndrome-type-1
#16
LETTER
Monica T Kraft, Lubna S Mehyar, Benjamin T Prince, Shalini C Reshmi, Roshini S Abraham, Rolla Abu-Arja
No abstract text is available yet for this article.
February 5, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33544357/severe-liver-disorder-following-liver-transplantation-in-sting-associated-vasculopathy-with-onset-in-infancy
#17
Takashi Ishikawa, Eiichiro Tamura, Mureo Kasahara, Hajime Uchida, Masataka Higuchi, Hisato Kobayashi, Hirotaka Shimizu, Eiki Ogawa, Nobuyuki Yotani, Rie Irie, Rika Kosaki, Kenjiro Kosaki, Toru Uchiyama, Masafumi Onodera, Toshinao Kawai
PURPOSE: STING-associated vasculopathy with onset in infancy (SAVI) is a type-I interferonopathy, characterized by systemic inflammation, peripheral vascular inflammation, and pulmonary manifestations. There are three reports of SAVI patients developing liver disease, but no report of a SAVI patient requiring liver transplantation. Therefore, the relevance of liver inflammation is unclear in SAVI. We report a SAVI patient who developed severe liver disorder following liver transplantation...
February 5, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33534079/two-novel-homozygous-mutations-in-phosphoglucomutase-3-leading-to-severe-combined-immunodeficiency-skeletal-dysplasia-and-malformations
#18
Mathieu Fusaro, Aline Vincent, Martin Castelle, Jérémie Rosain, Benjamin Fournier, Maria Veiga-da-Cunha, Takfarinas Kentache, Jill Serre, Catherine Fallet-Bianco, Anne-Lise Delezoide, Laurent Renesme, Fanny Morice Picard, Eulalie Lasseaux, Nathalie Aladjidi, Nathalie Seta, Valérie Cormier-Daire, Emile van Schaftingen, Bénédicte Neven, Despina Moshous, Sophie Blesson, Capucine Picard
Phosphoglucomutase 3 (PGM3) deficiency is a rare congenital disorder of glycosylation. Most of patients with autosomal recessive hypomorphic mutations in PGM3 encoding for phosphoglucomutase 3 present with eczema, skin and lung infections, elevated serum IgE, as well as neurological and skeletal features. A few PGM3-deficient patients suffer from a more severe disease with nearly absent T cells and severe skeletal dysplasia. We performed targeted next-generation sequencing on two kindred to identify the underlying genetic etiology of a severe combined immunodeficiency with developmental defect...
February 3, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33532887/sting-mediated-lung-inflammation-and-beyond
#19
REVIEW
Marie-Louise Frémond, Yanick J Crow
Mendelian autoinflammatory diseases characterized by constitutive activation of the type I interferon pathway, the so-called type I interferonopathies, constitute a rapidly expanding group of inborn errors of immunity. Among the type I interferonopathies, STING-associated vasculopathy with onset in infancy (SAVI) and COPA syndrome were described in the last 6 years, both manifesting a major inflammatory lung component associated with significant morbidity and increased mortality. There is striking clinical and histopathological overlap between SAVI and COPA syndrome, although distinct features are also present...
February 2, 2021: Journal of Clinical Immunology
https://read.qxmd.com/read/33532886/treatment-of-immune-dysregulation-due-to-a-pten-variant-with-sirolimus
#20
LETTER
Jonathan S Emerson, Eric Y Lee, Lucinda J Berglund
No abstract text is available yet for this article.
February 2, 2021: Journal of Clinical Immunology
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