Biochemical studies on red blood cells from a patient with the Inab phenotype (decay-accelerating factor deficiency)

Reid, M. E.; Mallinson, Gary; Sim, R. B.; Poole, Joyce; Pausch, V.; Merry, Anthony H.; Liew, Yew‐Wah; Tanner, M. J. A.

doi:10.1182/blood.v78.12.3291.3291

Cited by 61 publications

(9 citation statements)

References 35 publications

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“…Mr Inab had an ileocoecal tumour and his protein losing enteropathy was cured by hemicolectomy (Daniels et al, 1982). A Jewish American Inab phenotype individual had Crohn's disease (Walthers et al, 1983) and a Russian woman, originally believed to have the Inab phenotype but later found to be Dr(a-) , also had chronic intestinal disease (Reid et al, 1991). However, an 86-year-old Italian DAF deficiency phenotypes in Japanese 145 ᭧ 1998 Blackwell Science Ltd, Transfusion Medicine, 8, 141-147 American woman with the Inab phenotype and her 70year-old Inab phenotype brother had no history of intestinal disorder (Lin et al, 1988).…”

Section: Discussionmentioning

confidence: 99%

Decay‐accelerating factor (CD55) deficiency phenotypes in Japanese

Daniels

Green

Mallinson

et al. 1998

Transfusion Medicine

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Decay‐accelerating factor (DAF, CD55) is a complement regulatory glycoprotein that expresses the Cromer‐system blood group antigens. Two, very rare, inherited DAF‐deficiency phenotypes, Inab and Dr(a–), were identified in Japanese propositi. Red cells of the Inab phenotype propositus had no Cromer‐system antigens and did not bind monoclonal anti‐DAF. The Inab propositus was homozygous for a DAF non‐sense mutation, converting the Trp53 codon to a stop codon; her parents were heterozygous for this mutation. This is the same mutation as that previously found in the original Inab phenotype propositus. Haemagglutination‐inhibition titrations of the serum of the Inab propositus with soluble‐recombinant DAF demonstrated that anti‐IFC represents a mixture of antibodies to all four DAF short consensus repeat domains. The Dr(a–) individual had very low levels of Cromer‐system antigens and DAF on her red cells. Loss of a TaqI restriction site from DAF exon 5 suggested that she has a previously detected mutation, encoding a Ser165Leu substitution. Red cells of the two propositi did not show abnormal levels of lysis in an acid lysis test, but after blocking of CD59 with monoclonal antibody, Inab phenotype red cells showed more lysis than Dr(a–) red cells, and Dr(a–) cells showed substantially more lysis than control cells.

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Section: Discussionmentioning

confidence: 99%

Decay‐accelerating factor (CD55) deficiency phenotypes in Japanese

Daniels

Green

Mallinson

et al. 1998

Transfusion Medicine

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“…This renders erythrocytes particularly vulnerable to complement-mediated lysis and thus haemoglobinuria, anaemia and thrombosis. It appears that this effect is mainly dependent on deficiency of CD59 with much less influence from CD55 [55]. Accordingly, PNH can now be successfully treated with eculizumab, an antibody that targets C5 and prevents its cleavage and activation leading otherwise to the formation of MAC.…”

Section: Cd59: Inhibitor Of Complement-mediated Lysis and Regulator Omentioning

confidence: 99%

The role of complement inhibitors beyond controlling inflammation

Blom

2017

J Intern Med

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Abstract. Blom AM (Lund University, Malm€ o, Sweden). The role of complement inhibitors beyond controlling inflammation (Review). J Intern Med 2017; 282: 116-128.The complement system is an arm of innate immunity that aids in the removal of pathogens and dying cells. Due to its harmful, pro-inflammatory potential, complement is controlled by several soluble and membrane-bound inhibitors. This family of complement regulators has been recently extended by the discovery of several new members, and it is becoming apparent that these proteins harbour additional functions. In this review, the current state of knowledge of the physiological functions of four complement regulators will be described: cartilage oligomeric matrix protein (COMP), CUB and sushi multiple domains 1 (CSMD1), sushi domain-containing protein 4 (SUSD4) and CD59. Complement activation is involved in both the development of and defence against cancer. COMP expression is pro-oncogenic, whereas CSMD1 and SUSD4 act as tumour suppressors. These effects may be related in part to the complex influence of complement on cancer but also depend on unrelated functions such as the protection of cells from endoplasmic reticulum stress conveyed by intracellular COMP. CD59 is the main inhibitor of the membrane attack complex, and its deficiency leads to complement attack on erythrocytes and severe haemolytic anaemia, which is now amenable to treatment with an inhibitor of C5 cleavage. Unexpectedly, the intracellular pool of CD59 is crucial for insulin secretion from pancreatic b-cells. This finding is one of several relating to the intracellular functions of complement proteins, which until recently were only considered to be present in the extracellular space. Understanding the alternative functions of complement inhibitors may unravel unexpected links between complement and other physiological systems, but is also important for better design of therapeutic complement inhibition.

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“…CD59 is a much smaller protein with no sequence or structural resemblance to the RCA family of proteins [27]. Several lines of evidence from human and animal studies indicate that CD59 is more relevant than CD55 and CD46 in protecting normal cells from MAC formation and MACinduced phenomena [37][38][39][40][41][42].…”

Section: Cdc the Complement Systemmentioning

confidence: 99%

The Role of Complement in the Mechanism of Action of Rituximab for B-Cell Lymphoma: Implications for Therapy

2008

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Rituximab, a genetically engineered chimeric monoclonal antibody specifically binding to CD20, was the first antibody approved by the U.S. Food and Drug Administration for the treatment of cancer. Rituximab significantly improves treatment outcome in relapsed or refractory, low-grade or follicular B-cell nonHodgkin's lymphoma (NHL). However, there are also some challenges for us to overcome: why ϳ50% of patients are unresponsive to rituximab in spite of the expression of CD20, and why some responsive patients develop resistance to further treatment. Although the antitumor mechanisms of rituximab are not completely understood, several distinct antitumor activities of rituximab have been suspected, including complementdependent cytotoxicity (CDC), antibody-dependent cellular cytotoxicity (ADCC), apoptosis, and direct growth arrest. To counteract resistance to rituximab therapy, several strategies have been developed to: (a) augment the CDC effect by increasing CD20 expression, heteroconjugating rituximab to cobra venom factor and C3b, and inhibiting membrane complement regulatory protein, especially CD59, function; (b) enhance the ADCC effect through some immunomodulatory cytokines and CR3-binding ␤-glucan; and (c) reduce the apoptotic threshold or induce apoptotic signaling on the tumor. Extensive studies indicate that rituximab combined with these approaches is more effective than a single rituximab approach. Herein, the mechanism of action of and resistance to rituximab therapy in B-cell NHL, in particular, the involvement of the complement system, are extensively reviewed. The Oncologist 2008;13: 954 -966

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Biochemical studies on red blood cells from a patient with the Inab phenotype (decay-accelerating factor deficiency)

Cited by 61 publications

References 35 publications

Decay‐accelerating factor (CD55) deficiency phenotypes in Japanese

Decay‐accelerating factor (CD55) deficiency phenotypes in Japanese

The role of complement inhibitors beyond controlling inflammation

The Role of Complement in the Mechanism of Action of Rituximab for B-Cell Lymphoma: Implications for Therapy

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