Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.

Autor: Nunes-Santos CJ; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Kuehn H; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Boast B; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Hwang S; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Kuhns DB; Neutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Stoddard J; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Niemela JE; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Fink DL; Neutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Pittaluga S; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Abu-Asab M; Electron Microscopy Laboratory, Biological Imaging Core, National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Davies JS; Predictive Toxicology Department of Safety Assessment, Genentech, South San Francisco, CA, USA., Barr VA; Laboratory of Cellular and Molecular Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Kawai T; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Delmonte OM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Bosticardo M; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Garofalo M; Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Carneiro-Sampaio M; Children's Hospital, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil., Somech R; Pediatric Department A and Immunology Service, Edmond and Lily Safra Children's Hospital, Tel Hashomer, Israel.; The Jeffrey Modell Foundation Israeli Network for Primary Immunodeficiency, New York, NY, USA.; Sheba Medical Center, Affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Gharagozlou M; Division of Allergy and Clinical Immunology, Department of Pediatrics, Children's Medical Centre, University of Medical Sciences, Tehran, Iran., Parvaneh N; Division of Allergy and Clinical Immunology, Department of Pediatrics, Children's Medical Centre, University of Medical Sciences, Tehran, Iran., Samelson LE; Laboratory of Cellular and Molecular Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Fleisher TA; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Puel A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Université Paris Cité, Imagine Institute, Paris, France., Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Université Paris Cité, Imagine Institute, Paris, France., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Université Paris Cité, Imagine Institute, Paris, France.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, Paris, France.; Howard Hughes Medical Institute, New York, NY, USA., Derfalvi B; Department of Pediatrics, Division of Immunology, Dalhousie University and IWK Health Center, Halifax, NS, Canada., Rosenzweig SD; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA. srosenzweig@cc.nih.gov.

Publikováno v: Nature communications [Nat Commun] 2023 Jun 22; Vol. 14 (1), pp. 3708. Date of Electronic Publication: 2023 Jun 22.

T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.

Autor: Kuehn HS; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD., Chang J; Laboratory for Transcriptional Regulation, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan., Yamashita M; Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan., Niemela JE; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD., Zou C; Laboratory for Transcriptional Regulation, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan., Okuyama K; Laboratory for Transcriptional Regulation, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan., Harada J; Laboratory for Transcriptional Regulation, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan., Stoddard JL; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD., Nunes-Santos CJ; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD., Boast B; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD., Baxter RM; Department of Immunology and Microbiology, University of Colorado School of Medicine, Aurora, CO., Hsieh EWY; Department of Immunology and Microbiology, University of Colorado School of Medicine, Aurora, CO.; Division of Allergy and Immunology, Department of Pediatrics, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO., Garofalo M; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD., Fleisher TA; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD., Morio T; Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan., Taniuchi I; Laboratory for Transcriptional Regulation, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan., Dutmer CM; Division of Allergy and Immunology, Department of Pediatrics, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO., Rosenzweig SD; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD.

Publikováno v: The Journal of experimental medicine [J Exp Med] 2021 Dec 06; Vol. 218 (12). Date of Electronic Publication: 2021 Oct 25.

Germline IKZF1 mutations and their impact on immunity: IKAROS-associated diseases and pathophysiology.

Autor: Kuehn HS; Immunology Service, Department of Laboratory Medicine, National Institutes of Health (NIH) Clinical Center, Bethesda, MD, USA., Nunes-Santos CJ; Immunology Service, Department of Laboratory Medicine, National Institutes of Health (NIH) Clinical Center, Bethesda, MD, USA., Rosenzweig SD; Immunology Service, Department of Laboratory Medicine, National Institutes of Health (NIH) Clinical Center, Bethesda, MD, USA.

Publikováno v: Expert review of clinical immunology [Expert Rev Clin Immunol] 2021 Apr; Vol. 17 (4), pp. 407-416. Date of Electronic Publication: 2021 Mar 19.

IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity.

Autor: Kuehn HS; Immunology Service, Department of Laboratory Medicine, National Institutes of Health (NIH) Clinical Center, 10 Center Dr., Bldg 10, Rm. 2C410F, Bethesda, MD, 20892, USA., Nunes-Santos CJ; Immunology Service, Department of Laboratory Medicine, National Institutes of Health (NIH) Clinical Center, 10 Center Dr., Bldg 10, Rm. 2C410F, Bethesda, MD, 20892, USA., Rosenzweig SD; Immunology Service, Department of Laboratory Medicine, National Institutes of Health (NIH) Clinical Center, 10 Center Dr., Bldg 10, Rm. 2C410F, Bethesda, MD, 20892, USA. srosenzweig@cc.nih.gov.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2021 Jan; Vol. 41 (1), pp. 1-10. Date of Electronic Publication: 2021 Jan 03.

IKAROS Family Zinc Finger 1-Associated Diseases in Primary Immunodeficiency Patients.

Autor: Nunes-Santos CJ; Immunology Service, Department of Laboratory Medicine, National Institutes of Health (NIH) Clinical Center, 10 Center Drive, Building 10, Room 2C410F, Bethesda, MD 20892, USA., Kuehn HS; Immunology Service, Department of Laboratory Medicine, National Institutes of Health (NIH) Clinical Center, 10 Center Drive, Building 10, Room 2C410F, Bethesda, MD 20892, USA., Rosenzweig SD; Immunology Service, Department of Laboratory Medicine, National Institutes of Health (NIH) Clinical Center, 10 Center Drive, Building 10, Room 2C410F, Bethesda, MD 20892, USA. Electronic address: srosenzweig@cc.nih.gov.

Publikováno v: Immunology and allergy clinics of North America [Immunol Allergy Clin North Am] 2020 Aug; Vol. 40 (3), pp. 461-470.