Bone-Marrow Transplantation for Inborn Error of Phagocytic Cells Associated With Defective Adherence, Chemotaxis, and Oxidative Response During Opsonised Particle Phagocytosis

Fischer, Alain; Descamps‐Latscha, Béatrice; Gerota, I; Scheinmetzler, C.; Virelizier, Jean-Louis; Trung, Pham Huu; Lisowska-Grospierre, B; Pérez, Nicolas; Durandy, Anne; Griscelli, C

doi:10.1016/s0140-6736(83)90509-3

Cited by 93 publications

(30 citation statements)

References 20 publications

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“…Firm neutrophil adhesion to endothelial cells appears to involve exclusively the interaction of leucocyte integrins of the ␤2 subfamily (CD11a, CD11b, CD11c/ CD18) with ICAM-1, as shown by the defects observed in CD18-deficient LAD patients and in ICAM-1 knock-out mice (Anderson et al, 1984;Fischer et al, 1983;Sligh et al, 1993). This differs from monocytes and lymphocytes, which also react via ␣4␤1 integrin with endothelial VCAM-1.…”

Section: Firm Adhesion and Spreadingmentioning

confidence: 99%

Neutrophils: Molecules, Functions and Pathophysiological Aspects

Witko‐Sarsat

Rieu

Descamps‐Latscha

et al. 2000

Laboratory Investigation

945

723

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Section: Firm Adhesion and Spreadingmentioning

confidence: 99%

Neutrophils: Molecules, Functions and Pathophysiological Aspects

Witko‐Sarsat

Rieu

Descamps‐Latscha

et al. 2000

Laboratory Investigation

945

723

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“…BM transplantation with successful engraftment of donor cells completely restores leukocyte function in human LAD patients [14]. Clinical and pathological findings of a BM transplanted heifer with BLAD were evaluated for 1.6 years, from 27 months after BM transplantation [49].…”

Section: Pathobiological Findingsmentioning

confidence: 99%

Bovine Leukocyte Adhesion Deficiency (BLAD): A Review

Nagahata

2004

J. Vet. Med. Sci.

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ABSTRACT. Bovine leukocyte adhesion deficiency (BLAD) in Holstein cattle is an autosomal recessive congenital disease characterized by recurrent bacterial infections, delayed wound healing and stunted growth, and is also associated with persistent marked neutrophilia. The molecular basis of BLAD is a single point mutation (adenine to guanine) at position 383 of the CD18 gene, which caused an aspartic acid to glycine substitution at amino acid 128 (D128G) in the adhesion molecule CD18. Neutrophils from BLAD cattle have impaired expression of the β 2 integrin (CD11a,b,c/CD18) of the leukocyte adhesion molecule. Abnormalities in a wide spectrum of adherence dependent functions of leukocytes have been fully characterized. Cattle affected with BLAD have severe ulcers on oral mucous membranes, severe periodontitis, loss of teeth, chronic pneumonia and recurrent or chronic diarrhea. Affected cattle die at an early age due to the infectious complications. Holstein bulls, including carrier sires that had a mutant BLAD gene in heterozygote were controlled from dairy cattle for a decade. The control of BLAD in Holstein cattle by publishing the genotypes and avoiding the mating between BLAD carriers was found to be successful. This paper provides an overview of the genetic disease BLAD with reference to the dis ease in Holstein cattle. KEY WORDS: adhesion deficiency, β 2 integrin, BLAD, genetic defect, Holstein.

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“…The patient phenotype is variable but reflects the level of β2 integrins expressed. Patients with <1% expression suffer from life-threatening infections and require bone marrow transplantation for long-term survival (12). In patients with 1%-10% expression, defects in leukocyte mobility, adherence, and endocytosis lead to periodic periodontitis, skin infections, and retarded wound healing with dysplastic scarring.…”

Section: Introductionmentioning

confidence: 99%

A novel leukocyte adhesion deficiency caused by expressed but nonfunctional β2 integrins Mac-1 and LFA-1

Hogg¹,

Stewart²,

Scarth³

et al. 1999

J. Clin. Invest.

160

134

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The adhesive response of circulating leukocytes to inflammatory stimuli is now well documented (1, 2). After such signals, leukocytes adhere to the blood vasculature using selectin-mediated interactions, and this stage leads to activation of their integrins. The β2 or leukocyte integrins lymphocyte function-associated molecule (LFA)-1 (CD11a/CD18) has a major role in the firm adhesion of leukocytes to endothelium and in their migration across this barrier. In addition, LFA-1 cooperates with the T-cell receptor in antigen-stimulated T-cell priming (3) and, in general, participates in the formation of leukocyte-leukocyte contacts. Mac-1 (CD11b/CD18) is a major phagocytic receptor operating in association with the third β2 integrin, p150,95 (CD11c/CD18), and both recognize as ligands fibrinogen and the complement fragment iC3b (4, 5).Expression of integrins on the cell membrane is not a guarantee of their ability to function as adhesion receptors. Integrins must undergo conversion from inactive to active ligand-binding status, which occurs through a process of clustering and/or altered conformation (6, 7). The stimulus for this activation is initiated by the triggering of other membrane receptors, a route of signal transduction that has been termed "inside out" signaling. The integrins bind divalent cations such as Mg 2+ or Mn 2+ in order to function, and an alternative means of directly altering integrin activity is through extracellular exposure to these cations. It is thought that these latter procedures mimic the conformational changes brought about by integrin-activating signals generated intracellularly. Special anti-integrin monoclonal antibodies (MABs) can serve as reporters of this activation. For example, MAB 24 recognizes an epitope on high-affinity β2 integrin (7) and detects a conformational change in the form of interdomain movement involving the ligand binding I domain on the integrin α subunit (8).Valuable information about the functioning of the β2 integrins has come from study of the leukocyte adhesion deficiency (LAD)-1 syndrome. LAD-1 is an autosomal recessive disorder caused by mutation in the CD18 gene on chromosome 21 that leads to absent or aberrant biosynthesis of the β2 subunit of leukocyte integrins (9-11). This lesion is reflected in the absence or markedly diminished expression on the leukocyte cell surface of the β2 integrins, CD11a/CD18 (LFA-1), CD11b/CD18 (Mac-1), and CD11c/CD18 (p150,95). The patient phenotype is variable but reflects the level of β2 integrins expressed. Patients with <1% expression suffer from life-threatening infections and require bone marrow transplantation for long-term survival (12). In patients with 1%-10% expression, defects in leukocyte mobility, adherence, and endocytosis lead to periodic periodontitis, skin infections, and retarded wound healing with dysplastic scarring. The heterozygotic relatives of the patients have ∼40%-60% normal levels of β2 inte- In the leukocyte adhesion deficiency (LAD)-1 syndrome, there is diminished expression of β2 (CD18) inte...

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Bone-Marrow Transplantation for Inborn Error of Phagocytic Cells Associated With Defective Adherence, Chemotaxis, and Oxidative Response During Opsonised Particle Phagocytosis

Cited by 93 publications

References 20 publications

Neutrophils: Molecules, Functions and Pathophysiological Aspects

Neutrophils: Molecules, Functions and Pathophysiological Aspects

Bovine Leukocyte Adhesion Deficiency (BLAD): A Review

A novel leukocyte adhesion deficiency caused by expressed but nonfunctional β2 integrins Mac-1 and LFA-1

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