Literature DB >> 27492259

Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18.

Diana Cabanillas1, Lorena Regairaz1, Caroline Deswarte2,3, Mariel García4, Marie-Edith Richard2,3, Jean-Laurent Casanova2,3,5,6,7, Jacinta Bustamante2,3,5,8, Laura Perez9.   

Abstract

Entities:  

Keywords:  Leukocyte adhesion deficiency; New mutation; Residual integrin expression

Mesh：

Substances：

Year:  2016        PMID： 27492259     DOI： 10.1007/s10875-016-0322-1

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  7 in total

1.  Structural and functional studies with antibodies to the integrin beta 2 subunit. A model for the I-like domain.

Authors:  C Huang; Q Zang; J Takagi; T A Springer
Journal:  J Biol Chem       Date:  2000-07-14       Impact factor: 5.157

2.  A novel point mutation in CD18 causing the expression of dysfunctional CD11/CD18 leucocyte integrins in a patient with leucocyte adhesion deficiency (LAD).

Authors:  E C Mathew; J M Shaw; F A Bonilla; S K Law; D A Wright
Journal:  Clin Exp Immunol       Date:  2000-07       Impact factor: 4.330

3.  A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1.

Authors:  N Hogg; M P Stewart; S L Scarth; R Newton; J M Shaw; S K Law; N Klein
Journal:  J Clin Invest       Date:  1999-01       Impact factor: 14.808

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

5.  Neutrophil function and molecular analysis in severe leukocyte adhesion deficiency type I without separation delay of the umbilical cord.

Authors:  Yi-Chan Tsai; Wen-I Lee; Jing-Long Huang; Iou-Jih Hung; Tang-Her Jaing; Tsung-Chieh Yao; Mai-Tzu Chen; Ming-Ling Kuo
Journal:  Pediatr Allergy Immunol       Date:  2007-07-25       Impact factor: 6.377

6.  Mutation of a ligand binding domain of beta 3 integrin. Integral role of oxygenated residues in alpha IIb beta 3 (GPIIb-IIIa) receptor function.

Authors:  M L Bajt; J C Loftus
Journal:  J Biol Chem       Date:  1994-08-19       Impact factor: 5.157

Review 7.  Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.

Authors:  Capucine Picard; Waleed Al-Herz; Aziz Bousfiha; Jean-Laurent Casanova; Talal Chatila; Mary Ellen Conley; Charlotte Cunningham-Rundles; Amos Etzioni; Steven M Holland; Christoph Klein; Shigeaki Nonoyama; Hans D Ochs; Eric Oksenhendler; Jennifer M Puck; Kathleen E Sullivan; Mimi L K Tang; Jose Luis Franco; H Bobby Gaspar
Journal:  J Clin Immunol       Date:  2015-10-19       Impact factor: 8.317
  7 in total
  5 in total

1.  Clinical and Genetic Spectrum of a Large Cohort of Patients With Leukocyte Adhesion Deficiency Type 1 and 3: A Multicentric Study From India.

Authors:  Priyanka Madhav Kambli; Umair Ahmed Bargir; Reetika Malik Yadav; Maya Ravishankar Gupta; Aparna Dhondi Dalvi; Gouri Hule; Madhura Kelkar; Sneha Sawant-Desai; Priyanka Setia; Neha Jodhawat; Nayana Nambiar; Amruta Dhawale; Pallavi Gaikwad; Shweta Shinde; Prasad Taur; Vijaya Gowri; Ambreen Pandrowala; Anju Gupta; Vibhu Joshi; Madhubala Sharma; Kanika Arora; Rakesh Kumar Pilania; Himanshi Chaudhary; Amita Agarwal; Shobita Katiyar; Sagar Bhattad; Stalin Ramprakash; Raghuram Cp; Ananthvikas Jayaram; Vinod Gornale; Revathi Raj; Ramya Uppuluri; Meena Sivasankaran; Deenadayalan Munirathnam; Harsha Prasad Lashkari; Manas Kalra; Anupam Sachdeva; Avinash Sharma; Sarath Balaji; Geeta Madathil Govindraj; Sunil Karande; Ruchi Nanavati; Mamta Manglani; Girish Subramanyam; Abhilasha Sampagar; Indumathi Ck; Parinitha Gutha; Swati Kanakia; Shiv Prasad Mundada; Vidya Krishna; Sheela Nampoothiri; Sandeep Nemani; Amit Rawat; Mukesh Desai; Manisha Madkaikar
Journal:  Front Immunol       Date:  2020-12-16       Impact factor: 7.561

2.  Novel ITGB2 Mutation Is Responsible for a Severe Form of Leucocyte Adhesion Deficiency Type 1.

Authors:  Ahmed Bouhouche; Yasmin Tabache; Omar Askander; Hicham Charoute; Nada Mesnaoui; Lamiae Belayachi; Naima El Hafidi; Houyam Hardizi; Elmostafa El Fahime; Naima Erreimi; Abdelhamid Barakat; Mohammed Khattab; Fouad Seghrouchni; Amine El Hassani
Journal:  Biomed Res Int       Date:  2022-03-03       Impact factor: 3.411

3.  β2 Integrins on Dendritic Cells Modulate Cytokine Signaling and Inflammation-Associated Gene Expression, and Are Required for Induction of Autoimmune Encephalomyelitis.

Authors:  Monika Bednarczyk; Vanessa Bolduan; Maximilian Haist; Henner Stege; Christoph Hieber; Lisa Johann; Carsten Schelmbauer; Michaela Blanfeld; Khalad Karram; Jenny Schunke; Tanja Klaus; Ingrid Tubbe; Evelyn Montermann; Nadine Röhrig; Maike Hartmann; Jana Schlosser; Tobias Bopp; Björn E Clausen; Ari Waisman; Matthias Bros; Stephan Grabbe
Journal:  Cells       Date:  2022-07-13       Impact factor: 7.666

4.  Clinical and laboratory findings in patients with leukocyte adhesion deficiency type I: A multicenter study in Turkey.

Authors:  Ismail Yaz; Begum Ozbek; Hacer Neslihan Bildik; Cagman Tan; Sevil Oskay Halacli; Elif Soyak Aytekin; Saliha Esenboga; Sukru Cekic; Sara Sebnem Kilic; Ozlem Keskin; Karin van Leeuwen; Dirk Roos; Deniz Cagdas; Ilhan Tezcan
Journal:  Clin Exp Immunol       Date:  2021-08-05       Impact factor: 5.732

Review 5.  β2 Integrins-Multi-Functional Leukocyte Receptors in Health and Disease.

Authors:  Monika Bednarczyk; Henner Stege; Stephan Grabbe; Matthias Bros
Journal:  Int J Mol Sci       Date:  2020-02-19       Impact factor: 5.923
  5 in total

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