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

Pediatric Allergy and Immunology

Volumn 19, Issue 1, 2008, Pages 25-32

  Tsai, Yi Chan ^a   Lee, Wen I ^a   Huang, Jing Long ^a   Hung, Iou Jih ^a   Jaing, Tang Her ^a   Yao, Tsung Chieh ^a   Chen, Mai Tzu ^a   Kuo, Ming Ling ^a  

^a CHANG GUNG UNIVERSITY   (Taiwan)

Author keywords

Adhesion molecular expression; Chemotaxis; H2O2 production; Leukocyte adhesion deficiency; Phagocytosis; Primary immunodeficiency disease; Splice mutation

Indexed keywords

CD18 ANTIGEN;

ARTICLE; CASE REPORT; CELL FUNCTION; CHEMOTAXIS; CLINICAL FEATURE; DISEASE SEVERITY; FACIAL NERVE PARALYSIS; HOMOZYGOSITY; HUMAN; INFANT; INFECTION SENSITIVITY; INTRON; LEUKOCYTE ADHESION DEFICIENCY; MALE; NEUTROPHIL; NUCLEOTIDE SEQUENCE; PHAGOCYTOSIS; PRIORITY JOURNAL; SEPSIS; STAPHYLOCOCCUS AUREUS; UMBILICAL CORD;

ANTIGENS, CD15; ANTIGENS, CD18; CHEMOTAXIS, LEUKOCYTE; HUMANS; HYDROGEN PEROXIDE; INFANT; LEUKOCYTE-ADHESION DEFICIENCY SYNDROME; MACROPHAGE-1 ANTIGEN; MALE; MUTATION; NEUTROPHILS; PHAGOCYTOSIS; UMBILICAL CORD;

EID: 38149135941     PISSN: 09056157     EISSN: 13993038     Source Type: Journal    
DOI: 10.1111/j.1399-3038.2007.00590.x     Document Type: Article

References (40)

1. Spring TA. Traffic signals on endothelium for lymphocyte recirculation and leuocyte emigration. Ann Rev Physiol 1995 : 57 : 827 72.
2. Bevilaqua MP. Endothelial-leukocyte adhesion molecules. Ann Rev Immunol 1993 : 11 : 767 840.
3. Fischer A, Lisowska-Grospierre B, Anderson DC, Springer TA. Leukocyte adhesion deficiency: molecular basis and functional consequences. Immunodefic Rev 1988 : 1 : 39 54.
4. Vihinen M, Arredondo-Vega FX, Casanova JL, et al. Primary immunodeficiency mutation databases. Adv Genet 2001 : 43 : 103 88.
5. Roos D, Law SK. Hematologically important mutations: leukocyte adhesion deficiency. Blood Cells Mol Diseases 2001 : 27 : 1000 4.
6. Lubke T, Marquardt T, Etzioni A, et al. Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. Nature Genet 2001 : 28 : 73 6.
7. Luhn K, Wild MK, Eckhardt M, Gerardy-Schahn R, Vestweber D. The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. Nature Genet 2001 : 28 : 69 72.
8. Etzioni A, Frydman M, Pollack S, et al. Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency. N Engl J Med 1992 : 327 : 1789 92.
9. Alon R, Aker M, Feigelson S, et al. A novel genetic leukocyte adhesion deficiency in sub second triggering of integrin avidity by endothelial chemokines results in impaired leukocyte arrest on vascular endothelium under shear flow. Blood 2003 : 101 : 4437 45.
10. Alon R, Etzioni A. LAD III, a novel group of leukocyte integrin activation deficiencies. Trends Immunol 2003 : 24 : 561 6.
11. Kuijpers TW, van Lier RA, Hamann D, et al. (LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins. J Clin Invest 1997 1725 33.
12. Kinashi T, Aker M, Sokolovsky-Eisenberg M, et al. LAD-III, a leukocyte adhesion deficiency syndrome associated with defective Rap 1 activation and impaired stabilization of integrin bonds. Blood 2004 : 103 : 1033 6.
13. McDowall A, Inwald D, Leitinger B, et al. A novel form of integrin dysfunction involving beta 1, beta 2 and beta 3 integrins. J Clin Invest 2003 : 111 : 51 60.
14. Etzioni A, Alon R. Leukocyte adhesion deficiency III: a group of integrin activation defects in hematopoietic lineage cells. Curr Opin Allergy Clin Immunol 2004 : 4 : 485 90.
15. Wahn U. Evaluation of the child with suspected primary immunodeficiency. Pediatr Allergy Immunol 1995 : 6 : 71 9.
16. Lee WI, Kuo ML, Huang JL, Lin SJ Wu CJ. Distribution and clinical aspects of primary immunodeficiencies in a Taiwan pediatric tertiary hospital during a 20-year period. J Clin Immunol 2005 : 25 : 162 73.
17. Yang KD, Hill HR. Assessment of neutrophil function disorders: practical and preventive interventions. Pediatr Infect Dis J 1994 : 13 : 906 19.
18. Lee WI, Torgerson TR, Schumacher MJ, et al. Molecular analysis in a large cohorts of patients with hyper IgM syndrome. Blood 2005 : 105 : 1881 90.
19. Schiff DE, Kline L, Soldau K, et al. Phagocytosis of gram-negative bacteria by a unique CD14-dependent mechanism. J Leukoc Biol 1997 : 62 : 786 94.
20. Oudesluys-Murphy AM, den Hollander JC, Hop WC. Umbilical cord separation: histological findings and perinatal factors. Biol Neonate 1990 : 58 : 236 40.
21. Rosenzweig SD, Uzel G, Holland SM. Phagocytic disorders. In : Stem ER, Ochs HD, Winkelstein JA, eds. Immunologic Disorders in Infants and Children. Philadelphia : Elsevier Press, 2004 : 618 51.
22. Takda H, Yoshikawa H, Imaizumi M, et al. Delay separation of the umbilical cord in two siblings with Interleukin-1 receptor-associated kinase 4 deficiency: rapid screening by flow cytometer. Pediatrics 2006 : 148 : 546 8.
23. Janssens S, Beyaert R. Functional diversity and regulation of different interleukin-1 receptor associated kinase (IRAK) family members. Mol Cell 2003 : 11 : 293 302.
24. Kishimoto TK, Hollander N, Roberts TM, Anderson DC, Springer TA. Heterogeneous mutations in the beta subunit common to the LFA-1, Mac-1, and p150,95 glycoproteins cause leukocyte adhesion deficiency. Cell 1987 : 50 : 193 202.
25. Hynes RO. Integrins: versatility, modulation, and signaling in cell adhesion. Cell 1992 : 69 : 11 25.
26. Schraven B, Wild M, Kirchgessner H, et al. Alterations of CD2 association with T cell receptor signaling molecules in ''CD2 unresponsive" human T lymphocytes. Eur J Immunol 1993 : 23 : 119 23.
27. Grakoui A, Bromley SK, Sumen C, et al. The immunological synapse: a molecular machine controlling T cell activation. Science 1999 : 285 : 221 7.
28. Schraven B, Samstag Y, Altevogt P, Meuer SC. Association of CD2 and CD45 on human T lymphocytes. Nature 1990 : 345 : 71 4.
29. Allende LM, Hernandez M, Corell A, et al. A novel CD18 genomic deletion in a patient with severe leucocyte adhesion deficiency: a possible CD2/lymphocyte function-associated antigen-1 functional association in humans. Immunology 2000 : 99 : 440 50.
30. Hibbs ML, Wardlaw AJ, Stacker SA, et al. Transfection of cells from patients with leukocyte adhesion deficiency with an integrin beta subunit (CD18) restores lymphocyte function-associated antigen-1 expression and function. J Clin Invest 1990 : 85 : 674 81.
31. ITGB2base: Mutation Registry for Leukocyte Adhesion Deficiency I (LAD-I) in website : http://bioinf.uta.fi/ITGB2base/
32. Hogg N, Stewart MP, Scarth SL, et al. A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1. J Clin Invest 1999 : 103 : 97 106.
33. Mathew EC, Shaw JM, Bonilla FA, Law SK, Wright DA. A novel point mutation in CD18 causing the expression of dysfunctional CD11/CD18 leucocyte integrins in a patient with leucocyte adhesion deficiency (LAD). Clin Exp Immunol 2000 : 121 : 133 8.
34. Shaw JM, Al-Shamkhani A, Boxer LA, et al. Characterization of four CD18 mutants in leucocyte adhesion deficient (LAD) patients with differential capacities to support expression and function of the CD11/CD18 integrins LFA-1, Mac-1 and p150,95. Clin Exp Immunol 2001 : 126 : 311 8.
35. Roos D, Meischl C, de Boer M, et al. Genetic analysis of patients with leukocyte adhesion deficiency: genomic sequencing reveals otherwise undetectable mutations. Exp Hematol 2002 : 30 : 252 61.
36. Hixson P, Smith CW, Shurin SB, Tosi MF. 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 : 103 : 1105 13.
37. Lee WI, Jaing TH, Hsieh MY, Kuo ML, Lin SJ, Huang JL. Distribution, infections, treatments and molecular analysis in a large cohort of patients with primary immunodeficiency diseases (PIDs) in Taiwan. J Clin Immunol 2006 : 26 : 274 83.
38. Hung CH, Cheng SN, Hua YM, Wang CL, Chen YH Yang KD. Leukocyte adhesion deficiency disorder: report of one case. Acta Paediatr Taiwan 1999 : 40 : 128 31.
39. Farinha NJ, Duval M, Wagner E, et al. Unrelated bone marrow transplantation for leukocyte adhesion deficiency. Bone Marrow Transplant 2002 : 30 : 979 81.
40. Fisher A, Landais P, Friedrich W. Bone marrow transplantation (BMT) in Europe for primary immunodeficiencies other than severe combined immunodeficiency. Blood 1994 : 83 : 1149 54.