Literature DB >> 20213844

Leukocyte adhesion deficiency-III in an African-American patient.

Himalee Sabnis1, Anjali Kirpalani, John Horan, Alison McDowall, Lena Svensson, Anthony Cooley, Tara Merck, Shawn Jobe, Nancy Hogg, Michael Briones.   

Abstract

Leukocyte adhesion deficiency-III (LAD-III) is a rare disorder characterized by abnormal signaling to beta integrins, leading to defective leukocyte adhesion and chemotaxis and platelet aggregation. Here we present the first case of an African-American female infant with this disorder. She had history of multiple infections, bleeding, and leukocytosis since birth. She was successfully treated with allogeneic bone marrow transplant using a reduced intensity-conditioning regimen. Mutations in KINDLIN-3 have been described in LAD-III but the mutations in KINDLIN-3 in her case are unique.

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Year:  2010        PMID: 20213844     DOI: 10.1002/pbc.22386

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN: 1545-5009            Impact factor:   3.167


  9 in total

Review 1.  The integrin adhesome: from genes and proteins to human disease.

Authors:  Sabina E Winograd-Katz; Reinhard Fässler; Benjamin Geiger; Kyle R Legate
Journal:  Nat Rev Mol Cell Biol       Date:  2014-04       Impact factor: 94.444

2.  Leukocyte adhesion deficiency-I variant syndrome (LAD-Iv, LAD-III): molecular characterization of the defect in an index family.

Authors:  Estelle S Harris; Tammy L Smith; Gregory M Springett; Andrew S Weyrich; Guy A Zimmerman
Journal:  Am J Hematol       Date:  2011-12-03       Impact factor: 10.047

Review 3.  The insider's guide to leukocyte integrin signalling and function.

Authors:  Nancy Hogg; Irene Patzak; Frances Willenbrock
Journal:  Nat Rev Immunol       Date:  2011-05-20       Impact factor: 53.106

Review 4.  Lessons from rare maladies: leukocyte adhesion deficiency syndromes.

Authors:  Estelle S Harris; Andrew S Weyrich; Guy A Zimmerman
Journal:  Curr Opin Hematol       Date:  2013-01       Impact factor: 3.284

Review 5.  Integrin function in vascular biology: a view from 2013.

Authors:  Edward F Plow; Julia Meller; Tatiana V Byzova
Journal:  Curr Opin Hematol       Date:  2014-05       Impact factor: 3.284

Review 6.  [Morphological characteristics of osteopetrosis].

Authors:  J Zustin; M Amling; R Crazzolara; S Butscheidt; A Schulz; R Oheim
Journal:  Pathologe       Date:  2018-03       Impact factor: 1.011

7.  Kindlin-3 mutation in mesenchymal stem cells results in enhanced chondrogenesis.

Authors:  Bethany A Kerr; Lihong Shi; Alexander H Jinnah; Koran S Harris; Jeffrey S Willey; Donald P Lennon; Arnold I Caplan; Tatiana V Byzova
Journal:  Exp Cell Res       Date:  2021-01-05       Impact factor: 3.905

8.  Kindlin-3-mediated signaling from multiple integrin classes is required for osteoclast-mediated bone resorption.

Authors:  Sarah Schmidt; Inaam Nakchbandi; Raphael Ruppert; Nina Kawelke; Michael W Hess; Kristian Pfaller; Pierre Jurdic; Reinhard Fässler; Markus Moser
Journal:  J Cell Biol       Date:  2011-02-28       Impact factor: 10.539

9.  Parkin Coordinates Platelet Stress Response in Diabetes Mellitus: A Big Role in a Small Cell.

Authors:  Seung Hee Lee; Jing Du; John Hwa; Won-Ho Kim
Journal:  Int J Mol Sci       Date:  2020-08-15       Impact factor: 5.923

  9 in total

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