Sequence variants underlying severe combined immunodeficiency and leukocyte adhesion deficiency type 1 in six consanguineous families.

Autor: Fayyaz H; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University Islamabad, Islamabad, Pakistan., Zaman A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University Islamabad, Islamabad, Pakistan.; Department of Biochemistry, Federal Medical & Dental College, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan., Haider N; Department of Pediatrics, Pakistan Institute of Medical Sciences Islamabad, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan., Waris R; Department of Pediatrics, Pakistan Institute of Medical Sciences Islamabad, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan., Hussain M; Department of Immunology, Armed Forces Institute of Pathology, Combined Military Hospital, Rawalpindi, Pakistan., Raza SI; HBS Medical and Dental College, Islamabad, Pakistan., Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University Islamabad, Islamabad, Pakistan., Ullah I; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University Islamabad, Islamabad, Pakistan. imranullah@qau.edu.pk.

Publikováno v: Immunogenetics [Immunogenetics] 2024 Dec; Vol. 76 (5-6), pp. 351-360. Date of Electronic Publication: 2024 Sep 17.

Analysis of Clinical, Immunological and Molecular Features of Leukocyte Adhesion Deficiency Type I in Egyptian Children.

Autor: Saad MM; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, 11562, Egypt. mai.magdy@kasralainy.edu.eg., Alkady R; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, 11562, Egypt., Eldash A; Clinical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., El Hawary RE; Clinical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Meshaal SS; Clinical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Galal NM; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, 11562, Egypt., Elmarsafy AM; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, 11562, Egypt.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2024 Apr 05; Vol. 44 (4), pp. 92. Date of Electronic Publication: 2024 Apr 05.

Clinical and functional spectrum of RAC2-related immunodeficiency.

Autor: Donkó Á; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Sharapova SO; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus., Kabat J; Research Technologies Branch, Biological Imaging Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Ganesan S; Research Technologies Branch, Biological Imaging Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Hauck FH; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Bergerson JRE; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Marois L; Department of Medicine, Centre Hospitalier Universitaire de Montréal and Institut de Recherches Cliniques de Montréal, Université de Montréal, Montreal, QC, Canada.; Department of Medecine, Centre Hospitalier Universitaire de Québec, Université de Laval, Québec, QC, Canada., Abbott J; University of Colorado School of Medicine, Department of Pediatrics, Section of Allergy and Immunology, Children's Hospital of Colorado, Aurora, CO., Moshous D; Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris Centre Université de Paris, Paris, France.; Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, INSERM UMR 1163, Paris, France., Williams KW; Department of Pediatrics, Medical University of South Carolina, Charleston, SC., Campbell N; Hôpital Enfant Jésus, CHU de Québec, Québec, QC, Canada., Martin PL; Division of Transplant and Cellular Therapy, Duke University Medical School, Durham, NC., Lagresle-Peyrou C; Université Paris Cité, Imagine Institute, INSERM UMR 1163, Paris, France.; Biotherapy Clinical Investigation Center, Groupe Hospitalier Universitaire Ouest, Assistance Publique-Hôpitaux de Paris, INSERM, Paris, France., Trojan T; Allergy Partners of Oklahama, Stillwater, OK., Kuzmenko NB; D. Rogachev National Medical and Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Deordieva EA; D. Rogachev National Medical and Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Raykina EV; D. Rogachev National Medical and Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Abers MS; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Abolhassani H; Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Barlogis V; Pediatric Hematology Unit, La Timone University Hospital, Marseille, France., Milla C; Center for Excellence in Pulmonary Biology, Stanford University School of Medicine, Stanford, CA., Hall G; Department of Pediatrics, Division of Pediatric Allergy and Immunology, Duke University Medical Center, Durham, NC., Mousallem T; Department of Pediatrics, Division of Allergy and Immunology, Duke University Medical Center, Durham, NC., Church J; Pediatric Allergy/Immunology, Children's Hospital Los Angeles, Los Angeles, CA.; Clinical Pediatrics, Keck School of Medicine of the University of Southern California, Los Angeles, CA., Kapoor N; Division of Hematology, Oncology and Blood and Marrow Transplant, Children's Hospital Los Angeles, Los Angeles, CA., Cros G; Department of Medicine, Université de Montreal, Montreal, QC, Canada.; Institut de Recherches Cliniques de Montréal, Montreal, QC, Canada., Chapdelaine H; Department of Medicine, Université de Montreal, Montreal, QC, Canada.; Institut de Recherches Cliniques de Montréal, Montreal, QC, Canada., Franco-Jarava C; Department of Immunology, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Lopez-Lerma I; Department of Immunology, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Miano M; Haematology Unit, Scientific Institute for Research, Hospitalization and Healthcare Istituto Giannina Gaslini, Genoa, Italy., Leiding JW; Division of Allergy and Immunology, Department of Pediatrics, Johns Hopkins University, Baltimore, MD.; Institute for Clinical and Translational Research, Johns Hopkins All Children's Hospital, St. Petersburg, FL., Klein C; Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilian University Munich, Munich, Germany., Stasia MJ; Centre Hospitalier Universitaire Grenoble Alpes, Pôle de Biologie, Centre Diagnostic et Recherche sur la Granulomatose Septique Chronique, Grenoble, France.; Université Grenoble Alpes, Centre National de le Recherche Scientifique, CEA, UMR5075, Institut de Biologie Structurale, Grenoble, France., Fischer A; Université Paris Cité, Imagine Institute, Laboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Paris, France., Hsiao KC; Department of Immunology, Starship Child Health, Te Whatu Ora, Auckland, New Zealand.; Department of Paediatrics: Child and Youth Health, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand., Martelius T; Inflammation Center/Infectious Diseases, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland., Seppänen MRJ; Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland.; ERN-RITA Core Center Member, RITAFIN, Helsinki, Finland.; Rare Disease Center and Pediatric Research Center, Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland.; Translational Immunology Research Program, University of Helsinki, Helsinki, Finland., Barmettler S; Division of Rheumatology, Allergy and Immunology, Massachusetts General Hospital, Boston, MA., Walter J; University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL., Masmas TN; Pediatric Hematopoietic Stem Cell Transplantation and Immunodeficiency, The Child and Adolescent Department, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Mukhina AA; D. Rogachev National Medical and Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Falcone EL; Center for Inflammation, Immunity and Infectious Diseases, Montreal Clinical Research Institute, Montreal, QC, Canada.; Department of Medicine, Université de Montréal, Montreal, QC, Canada.; Department of Microbiology, Infectious Diseases and Immunology, Université de Montréal, Montreal, QC, Canada., Kracker S; Université Paris Cité, Imagine Institute, Laboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Paris, France., Shcherbina A; D. Rogachev National Medical and Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Holland SM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Leto TL; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Hsu AP; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.

Publikováno v: Blood [Blood] 2024 Apr 11; Vol. 143 (15), pp. 1476-1487.

A novel leukocyte adhesion deficiency type III mutation manifests functional importance of the compact FERM domain in kindlin-3.

Autor: Xu Z; Thrombosis and Hemostasis Program, Versiti Blood Research Institute, Milwaukee, Wisconsin, USA., Jobe SM; Department of Pediatrics and Human Development, Michigan State University, Lansing, Michigan, USA., Ma YQ; Thrombosis and Hemostasis Program, Versiti Blood Research Institute, Milwaukee, Wisconsin, USA; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin, USA. Electronic address: yma@versiti.org., Shavit JA; Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA. Electronic address: jshavit@umich.edu.

Publikováno v: Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2024 Feb; Vol. 22 (2), pp. 558-564. Date of Electronic Publication: 2023 Oct 20.

Pediatric pyoderma gangrenosum associated with leukocyte adhesion deficiency type 1: A case report and review of the literature.

Autor: Smith KN; University of Florida College of Medicine, Gainesville, Florida, USA., Welborn M; Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida, USA., Monir RL; Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida, USA., Motaparthi K; Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida, USA., Schoch JJ; Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida, USA.

Publikováno v: Pediatric dermatology [Pediatr Dermatol] 2023 Nov-Dec; Vol. 40 (6), pp. 1086-1090. Date of Electronic Publication: 2023 Mar 31.