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   Variation registry for  Leukocyte adhesion deficiency I (LAD-I)


ITGB2base mutation publications

[2011] [2010] [2009] [2008] [2007] [2004] [2003] [2002] [2001] [2000] [1999] [1995] [1993] [1992] [1991] [1990] [1989] [1987] [1985] [1984] [1982] [1980] [1979] [ ]

Search PubMed latest citations for ITGB2 mutations

    2011

  • A novel 3' splice-site mutation and a novel gross deletion in leukocyte adhesion deficiency (LAD)-1.
    Bernard Cher TH, Chan HS, Klein GF, Jabkowski J, Schadenböck-Kranzl G, Zach O, Roca X, Law SK
    Biochem Biophys Res Commun 2011(4): 1099-104 [PubMed abstract].

    2010

  • The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patients.
    Simon AJ, Lev A, Wolach B, Gavrieli R, Amariglio N, Rosenthal E, Gazit E, Eyal E, Rechavi G, Somech R
    PLoS One 2010(11): e13659 [PubMed abstract].

  • Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene.
    Parvaneh N, Mamishi S, Rezaei A, Rezaei N, Tamizifar B, Parvaneh L, Sherkat R, Ghalehbaghi B, Kashef S, Chavoshzadeh Z, Isaeian A, Ashrafi F, Aghamohammadi A
    J Clin Immunol 2010(5): 756-60 [PubMed abstract].

  • A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient.
    Li L, Jin YY, Cao RM, Chen TX
    Chin Med J (Engl) 2010(10): 1278-82 [PubMed abstract].

    2009

  • ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency.
    Fiorini M, Piovani G, Schumacher RF, Magri C, Bertini V, Mazzolari E, Notarangelo L, Notarangelo LD, Barlati S
    J Allergy Clin Immunol 2009(6): 1356-8 [PubMed abstract].

    2008

  • Neutrophil function and molecular analysis in severe leukocyte adhesion deficiency type I without separation delay of the umbilical cord.
    Tsai YC, Lee WI, Huang JL, Hung IJ, Jaing TH, Yao TC, Chen MT, Kuo ML
    Pediatr Allergy Immunol 2008(1): 25-32 [PubMed abstract].

  • Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1).
    Uzel G, Tng E, Rosenzweig SD, Hsu AP, Shaw JM, Horwitz ME, Linton GF, Anderson SM, Kirby MR, Oliveira JB, Brown MR, Fleisher TA, Law SK, Holland SM
    Blood 2008(1): 209-18 [PubMed abstract].

  • The ITGB2 immunomodulatory gene (CD18), enterocolitis, and Hirschsprung's disease.
    Moore SW, Sidler D, Zaahl MG
    J Pediatr Surg 2008(8): 1439-44 [PubMed abstract].

    2007

  • Functional characterization of natural killer cells in type I leukocyte adhesion deficiency.
    Castriconi R, Dondero A, Cantoni C, Della Chiesa M, Prato C, Nanni M, Fiorini M, Notarangelo L, Parolini S, Moretta L, Notarangelo L, Moretta A, Bottino C
    Blood 2007(11): 4873-81 [PubMed abstract].

  • Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1.
    Tone Y, Wada T, Shibata F, Toma T, Hashida Y, Kasahara Y, Koizumi S, Yachie A
    Blood 2007(3): 1182-4 [PubMed abstract].

    2004

  • 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.
    Hixson P, Smith CW, Shurin SB, Tosi MF
    Blood 2004(3): 1105-13 [PubMed abstract].

    2003

  • Chemotaxis of non-compressed blood polymorphonuclear leukocytes from an adolescent with severe leukocyte adhesion deficiency.
    Malawista SE, de Boisfleury Chevance A, Brown EJ, Boxer LA, Law SK
    Am J Hematol 2003(2): 115-20 [PubMed abstract].

    2002

  • Genetic analysis of patients with leukocyte adhesion deficiency: genomic sequencing reveals otherwise undetectable mutations.
    Roos D, Meischl C, de Boer M, Simsek S, Weening RS, Sanal O, Tezcan I, Güngör T, Law SK
    Exp Hematol 2002(3): 252-61 [PubMed abstract].

  • Defective migration of monocyte-derived dendritic cells in LAD-1 immunodeficiency.
    Fiorini M, Vermi W, Facchetti F, Moratto D, Alessandri G, Notarangelo L, Caruso A, Grigolato P, Ugazio AG, Notarangelo LD, Badolato R
    J Leukoc Biol 2002(4): 650-6 [PubMed abstract].

    2001

  • Two Novel Frame Shift, Recurrent and De Novo Mutations in the ITGB2 (CD18) Gene Causing Leukocyte Adhesion Deficiency in a Highly Inbred North African Population.
    Fathallah DM, Jamal T, Barbouche MR, Bejaoui M, Hariz MB, Dellagi K
    J Biomed Biotechnol 2001(3): 114-121 [PubMed abstract].

  • Nonopsonic phagocytosis of Pseudomonas aeruginoas: insights from an infant with leukocyte adhesion deficiency.
    Pollard AJ, Heale JP, Tsang A, Massing B, Speert DP
    Pediatr Infect Dis J 2001(4): 452-4 [PubMed abstract].

  • 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.
    Shaw JM, Al-Shamkhani A, Boxer LA, Buckley CD, Dodds AW, Klein N, Nolan SM, Roberts I, Roos D, Scarth SL, Simmons DL, Tan SM, Law SK
    Clin Exp Immunol 2001(2): 311-8 [PubMed abstract].

    2000

  • 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.
    Allende LM, Hernández M, Corell A, García-Pérez MA, Varela P, Moreno A, Caragol I, García-Martín F, Guillén-Perales J, Olivé T, Español T, Arnaiz-Villena A
    Immunology 2000(3): 440-50 [PubMed abstract].

  • A novel point mutation in CD18 causing the expression of dysfunctional CD11/CD18 leucocyte integrins in a patient with leucocyte adhesion deficiency (LAD).
    Mathew EC, Shaw JM, Bonilla FA, Law SK, Wright DA
    Clin Exp Immunol 2000(1): 133-8 [PubMed abstract].

    1999

  • A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1.
    Hogg N, Stewart MP, Scarth SL, Newton R, Shaw JM, Law SK, Klein N
    J Clin Invest 1999(1): 97-106 [PubMed abstract].

    1995

  • Leukocyte adhesion deficiency mimicking Hirschsprung disease.
    Rivera-Matos IR, Rakita RM, Mariscalco MM, Elder FF, Dreyer SA, Cleary TG
    J Pediatr 1995(5): 755-7 [PubMed abstract].

  • Molecular characterization of leukocyte adhesion deficiency in six patients.
    Wright AH, Douglass WA, Taylor GM, Lau YL, Higgins D, Davies KA, Law SK
    Eur J Immunol 1995(3): 717-22 [PubMed abstract].

    1993

  • A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity.
    Back AL, Kerkering M, Baker D, Bauer TR, Embree LJ, Hickstein DD
    Biochem Biophys Res Commun 1993(3): 912-8 [PubMed abstract].

  • Characterization of two new CD18 alleles causing severe leukocyte adhesion deficiency.
    López Rodríguez C, Nueda A, Grospierre B, Sánchez-Madrid F, Fischer A, Springer TA, Corbí AL
    Eur J Immunol 1993(11): 2792-8 [PubMed abstract].

  • Familial genetic defect in a case of leukocyte adhesion deficiency.
    Ohashi Y, Yambe T, Tsuchiya S, Kikuchi H, Konno T
    Hum Mutat 1993(6): 458-67 [PubMed abstract].

    1992

  • Identification of two molecular defects in a child with leukocyte adherence deficiency.
    Back AL, Kwok WW, Hickstein DD
    J Biol Chem 1992(8): 5482-7 [PubMed abstract].

  • Genetic cause of leukocyte adhesion molecule deficiency. Abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta 2 integrins.
    Nelson C, Rabb H, Arnaout MA
    J Biol Chem 1992(5): 3351-7 [PubMed abstract].

  • Molecular basis for a severe case of leukocyte adhesion deficiency.
    Corbí AL, Vara A, Ursa A, García Rodriguez MC, Fontán G, Sánchez-Madrid F
    Eur J Immunol 1992(7): 1877-81 [PubMed abstract].

  • Recombinant human interferon-gamma treatment in severe leucocyte adhesion deficiency.
    Weening RS, Bredius RG, Vomberg PP, van der Schoot CE, Hoogerwerf M, Roos D
    Eur J Pediatr 1992(2): 103-7 [PubMed abstract].

  • Leukocyte adhesion deficiency: identification of novel mutations in two Japanese patients with a severe form.
    Matsuura S, Kishi F, Tsukahara M, Nunoi H, Matsuda I, Kobayashi K, Kajii T
    Biochem Biophys Res Commun 1992(3): 1460-7 [PubMed abstract].

  • An initiation codon mutation in CD18 in association with the moderate phenotype of leukocyte adhesion deficiency.
    Sligh JE, Hurwitz MY, Zhu CM, Anderson DC, Beaudet AL
    J Biol Chem 1992(2): 714-8 [PubMed abstract].

    1991

  • A 19-year-old man with leucocyte adhesion deficiency. In vitro and in vivo studies of leucocyte function.
    Davies KA, Toothill VJ, Savill J, Hotchin N, Peters AM, Pearson JD, Haslett C, Burke M, Law SK, Mercer NF
    Clin Exp Immunol 1991(2): 223-31 [PubMed abstract].

  • Defective neutrophil and lymphocyte function in leucocyte adhesion deficiency.
    Lau YL, Low LC, Jones BM, Lawton JW
    Clin Exp Immunol 1991(2): 202-8 [PubMed abstract].

    1990

  • Expression of LFA-1 by a lymphoblastoid cell line from a patient with monosomy 21: effects on intercellular adhesion.
    Taylor GM, Braddock D, Robson AJ, Fergusson WD, Duckett DP, D'Souza SW, Brenchley P
    Clin Exp Immunol 1990(3): 501-6 [PubMed abstract].

  • Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency.
    Arnaout MA, Dana N, Gupta SK, Tenen DG, Fathallah DM
    J Clin Invest 1990(3): 977-81 [PubMed abstract].

  • Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates.
    Wardlaw AJ, Hibbs ML, Stacker SA, Springer TA
    J Exp Med 1990(1): 335-45 [PubMed abstract].

    1989

  • Leukocyte adhesion deficiency. Aberrant splicing of a conserved integrin sequence causes a moderate deficiency phenotype.
    Kishimoto TK, O'Conner K, Springer TA
    J Biol Chem 1989(6): 3588-95 [PubMed abstract].

    1987

  • Congenital deficiency of leukocyte-adherence glycoproteins: a familial defect.
    Berkinshaw CJ, Weemaes CM, Roos D, Tetteroo PA, Weening RS
    Neth J Med 1987(3-4): 158-70 [PubMed abstract].

  • Heterogeneous mutations in the beta subunit common to the LFA-1, Mac-1, and p150,95 glycoproteins cause leukocyte adhesion deficiency.
    Kishimoto TK, Hollander N, Roberts TM, Anderson DC, Springer TA
    Cell 1987(2): 193-202 [PubMed abstract].

  • Leukocyte adhesion deficiency: an inherited defect in the Mac-1, LFA-1, and p150,95 glycoproteins.
    Anderson DC, Springer TA
    Annu Rev Med 1987(): 175-94 [PubMed abstract].

    1985

  • Characterization of patients with an increased susceptibility to bacterial infections and a genetic deficiency of leukocyte membrane complement receptor type 3 and the related membrane antigen LFA-1.
    Ross GD, Thompson RA, Walport MJ, Springer TA, Watson JV, Ward RH, Lida J, Newman SL, Harrison RA, Lachmann PJ
    Blood 1985(4): 882-90 [PubMed abstract].

  • The severe and moderate phenotypes of heritable Mac-1, LFA-1 deficiency: their quantitative definition and relation to leukocyte dysfunction and clinical features.
    Anderson DC, Schmalsteig FC, Finegold MJ, Hughes BJ, Rothlein R, Miller LJ, Kohl S, Tosi MF, Jacobs RL, Waldrop TC
    J Infect Dis 1985(4): 668-89 [PubMed abstract].

  • Immunologic studies with LFA-1- and Mo1-deficient lymphocytes from a patient with recurrent bacterial infections.
    Miedema F, Tetteroo PA, Terpstra FG, Keizer G, Roos M, Weening RS, Weemaes CM, Roos D, Melief CJ
    J Immunol 1985(5): 3075-81 [PubMed abstract].

    1984

  • Deficiency of a leukocyte surface glycoprotein (LFA-1) in two patients with Mo1 deficiency. Effects of cell activation on Mo1/LFA-1 surface expression in normal and deficient leukocytes.
    Arnaout MA, Spits H, Terhorst C, Pitt J, Todd RF
    J Clin Invest 1984(4): 1291-300 [PubMed abstract].

  • Absence of monoclonal-antibody-defined protein complex in boy with abnormal leucocyte function.
    Beatty PG, Ochs HD, Harlan JM, Price TH, Rosen H, Taylor RF, Hansen JA, Klebanoff SJ
    Lancet 1984(8376): 535-7 [PubMed abstract].

  • Deficiency of a surface membrane glycoprotein (Mo1) in man.
    Dana N, Todd RF, Pitt J, Springer TA, Arnaout MA
    J Clin Invest 1984(1): 153-9 [PubMed abstract].

    1982

  • Severe recurrent bacterial infections associated with defective adherence and chemotaxis in two patients with neutrophils deficient in a cell-associated glycoprotein.
    Bowen TJ, Ochs HD, Altman LC, Price TH, Van Epps DE, Brautigan DL, Rosin RE, Perkins WD, Babior BM, Klebanoff SJ, Wedgwood RJ
    J Pediatr 1982(6): 932-40 [PubMed abstract].

  • Deficiency of a granulocyte-membrane glycoprotein (gp150) in a boy with recurrent bacterial infections.
    Arnaout MA, Pitt J, Cohen HJ, Melamed J, Rosen FS, Colten HR
    N Engl J Med 1982(12): 693-9 [PubMed abstract].

    1980

  • An inherited abnormality of neutrophil adhesion. Its genetic transmission and its association with a missing protein.
    Crowley CA, Curnutte JT, Rosin RE, André-Schwartz J, Gallin JI, Klempner M, Snyderman R, Southwick FS, Stossel TP, Babior BM
    N Engl J Med 1980(21): 1163-8 [PubMed abstract].

    1979

  • Combined abnormality of neutrophil chemotaxis and bactericidal activity in a child with chronic skin infections.
    Issekutz AC, Lee KY, Biggar WD
    Clin Immunol Immunopathol 1979(1): 1-10 [PubMed abstract].

  • Hematologically important mutations: leukocyte adhesion deficiency.
    Roos D, Law SK
    Blood Cells Mol Dis (6): 1000-4 [PubMed abstract].

  • Leukocyte adhesion deficiency type 1 presenting with recurrent pyoderma gangrenosum and flaccid scarring.
    Hinze CH, Lucky AW, Bove KE, Marsh RA, Bleesing JH, Passo MH
    Pediatr Dermatol (5): 500-3 [PubMed abstract].