Hematologically important mutations: Leukocyte adhesion deficiency (second update).

Humans Cell Adhesion / genetics Leukocyte-Adhesion Deficiency Syndrome / genetics CD18 Antigens / genetics Leukocytes Mutation
FERMT3 GDP-fucose transporter ITGB2 Kindlin-3 LAD-I LAD-II LAD-III SLC35C1 β(2) integrins

Journal

Blood cells, molecules & diseases
ISSN: 1096-0961
Titre abrégé: Blood Cells Mol Dis
Pays: United States
ID NLM: 9509932

Informations de publication

Date de publication:
03 2023
Historique:
received: 29 10 2022
revised: 16 01 2023
accepted: 16 01 2023
pubmed: 26 1 2023
medline: 8 2 2023
entrez: 25 1 2023
Statut: ppublish

Résumé

Leukocyte adhesion deficiency (LAD) is an immunodeficiency caused by defects in the adhesion of leukocytes (especially neutrophils) to the blood vessel wall. As a result, patients with LAD suffer from severe bacterial infections and impaired wound healing, accompanied by neutrophilia. In LAD-I, characterized directly after birth by delayed separation of the umbilical cord, mutations are found in ITGB2, the gene that encodes the β subunit (CD18) of the β

Identifiants

DOI: 10.1016/j.bcmd.2023.102726 PMID: 36696755
pubmed: 36696755
pii: S1079-9796(23)00003-7
doi: 10.1016/j.bcmd.2023.102726
pii:
doi:

Substances chimiques

CD18 Antigens 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

102726

Informations de copyright

Copyright © 2023 Elsevier Inc. All rights reserved.

Auteurs

Dirk Roos (D)

Sanquin Research, and Landsteiner Laboratory, Amsterdam University Medical Center, location AMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address: d.roos@sanquin.nl.

Karin van Leeuwen (K)

Sanquin Research, and Landsteiner Laboratory, Amsterdam University Medical Center, location AMC, University of Amsterdam, Amsterdam, the Netherlands.

Manisha Madkaikar (M)

Pediatric Immunology and Leukocyte Biology Lab CMR, National Institute of Immunohaematology, K E M Hospital, Parel, Mumbai, India.

Priyanka M Kambli (PM)

Pediatric Immunology and Leukocyte Biology Lab CMR, National Institute of Immunohaematology, K E M Hospital, Parel, Mumbai, India.

Maya Gupta (M)

Pediatric Immunology and Leukocyte Biology Lab CMR, National Institute of Immunohaematology, K E M Hospital, Parel, Mumbai, India.

Vikram Mathews (V)

Dept of Hematology, Christian Medical College, Vellore, Tamil Nadu, India.

Amit Rawat (A)

Paediatric Allergy Immunology Unit, Department of Paediatrics, Advanced Paediatrics Centre, Chandigarh, India.

Douglas B Kuhns (DB)

Neutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD, USA.

Steven M Holland (SM)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA.

Martin de Boer (M)

Sanquin Research, and Landsteiner Laboratory, Amsterdam University Medical Center, location AMC, University of Amsterdam, Amsterdam, the Netherlands.

Hirokazu Kanegane (H)

Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

Nima Parvaneh (N)

Infectious Disease Research Center, Tehran University of Medical Sciences, Tehran, Iran.

Myriam Lorenz (M)

Institute for Transfusion Medicine, University Ulm, Ulm, Germany.

Klaus Schwarz (K)

Institute for Transfusion Medicine, University Ulm, Ulm, Germany; Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Württemberg - Hessen, Ulm, Germany.

Christoph Klein (C)

Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.

Roya Sherkat (R)

Immunodeficiency Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

Mahbube Jafari (M)

Immunodeficiency Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

Baruch Wolach (B)

Pediatric Immunology Service, Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Tel Hashomer, Israel.

Johan T den Dunnen (JT)

Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.

Taco W Kuijpers (TW)

Sanquin Research, and Landsteiner Laboratory, Amsterdam University Medical Center, location AMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Children's Hospital, Amsterdam University Medical Centre, location AMC, Amsterdam, the Netherlands.

M Yavuz Köker (MY)

Department of Immunology, Erciyes Medical School, University of Erciyes, Kayseri, Türkiye.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Hematologically important mutations: Leukocyte...
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Adhérence cellulaire › Hematologically important mutations: Leukocyte...
questionsmedicales.fr › Maladies du système immunitaire › Déficits immunitaires › Maladies d'immunodéficience primaire › Déficit d'adhérence leucocytaire › Hematologically important mutations: Leukocyte...
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Antigènes de différenciation › Antigènes de différenciation des lymphocytes T › Antigènes CD18 › Hematologically important mutations: Leukocyte...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Hematologically important mutations: Leukocyte...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Hematologically important mutations: Leukocyte...