Unique CD18 mutations involving a deletion in the extracellular stalk region and a major truncation of the cytoplasmic domain in a patient with leukocyte adhesion deficiency type 1

Blood ◽  
2004 ◽  
Vol 103 (3) ◽  
pp. 1105-1113 ◽  
Author(s):  
Patricia Hixson ◽  
C. Wayne Smith ◽  
Susan B. Shurin ◽  
Michael F. Tosi
Keyword(s):  
Leukocyte Adhesion ◽  
Cytoplasmic Domain ◽  
Lymphocyte Function ◽  
Wild Type ◽  
Leukocyte Adhesion Deficiency ◽  
Binding Function ◽  
Domain Truncation ◽  
Low Levels ◽  
Deficiency Type

AbstractTwo novel CD18 mutations were identified in a patient who was a compound heterozygote with type 1 leukocyte adhesion deficiency and whose phenotype was typical except that he exhibited hypertrophic scarring. A deletion of 36 nucleotides in exon 12 (1622del36) predicted the net loss of 12 amino acid (aa) residues in the third cysteine-rich repeat of the extracellular stalk region (mut-1). A nonsense mutation in exon 15 (2200G>T), predicted a 36-aa truncation of the cytoplasmic domain (mut-2). Lymphocyte function-associated antigen 1 (LFA-1) and macrophage antigen-1 (Mac-1) containing the mut-1 β2 subunit were expressed at very low levels compared with wild-type (wt) β2. Mac-1 and LFA-1 expression with the mut-2 β2 subunit were equivalent to results with wt β2. Binding function of Mac-1 with mut-2 β2 was equivalent to that with wt β2. However, binding function of LFA-1 with the mut-2 β2 subunit was reduced by 50% versus wt β2. It was concluded that (1) the portion of the CD18 stalk region deleted in mut-1 is critical for β2 integrin heterodimer expression but the portion of the cytoplasmic domain truncated in mut-2 is not; and (2) the mut-2 cytoplasmic domain truncation impairs binding function of LFA-1 but not of Mac-1. Studies with the patient's neutrophils (PMNs) were consistent with functional impairment of LFA-1 but not of Mac-1. (Blood. 2004;103:1105-1113)

Characterization of 11 New Cases of Leukocyte Adhesion Deficiency Type 1 with Seven Novel Mutations in the ITGB2 Gene

2010 ◽  
Vol 30 (5) ◽  
pp. 756-760 ◽  
Author(s):  
Nima Parvaneh ◽  
Setareh Mamishi ◽  
Amir Rezaei ◽  
Nima Rezaei ◽  
Banafshe Tamizifar ◽  
...  
Keyword(s):  
Leukocyte Adhesion ◽  
Leukocyte Adhesion Deficiency ◽  
Novel Mutations ◽  
Deficiency Type

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

2016 ◽  
Vol 36 (7) ◽  
pp. 627-630 ◽  
Author(s):  
Diana Cabanillas ◽  
Lorena Regairaz ◽  
Caroline Deswarte ◽  
Mariel García ◽  
Marie-Edith Richard ◽  
...  
Keyword(s):  
Leukocyte Adhesion ◽  
Leukocyte Adhesion Deficiency ◽  
Deficiency Type

Novel combination of ITGB2 mutations causing leukocyte adhesion deficiency type 1 (LAD-1)

2015 ◽  
Vol 06 (02) ◽  
pp. 141-148 ◽  
Author(s):  
Kunal Shah ◽  
Ellen Pratt ◽  
Mohamad Al-Rahawan ◽  
Roshini Abraham
Keyword(s):  
Leukocyte Adhesion ◽  
Leukocyte Adhesion Deficiency ◽  
Deficiency Type

scholarly journals Interleukin-12 and Interleukin-23 Blockade in Leukocyte Adhesion Deficiency Type 1

2017 ◽  
Vol 376 (12) ◽  
pp. 1141-1146 ◽  
Author(s):  
Niki M. Moutsopoulos ◽  
Christa S. Zerbe ◽  
Teresa Wild ◽  
Nicolas Dutzan ◽  
Laurie Brenchley ◽  
...  
Keyword(s):  
Leukocyte Adhesion ◽  
Interleukin 12 ◽  
Leukocyte Adhesion Deficiency ◽  
Interleukin 23 ◽  
Deficiency Type
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